Publications

  1. Emmerzaal TL, Jacobs L, Geenen B, Verweij V, Morava E, Rodenburg RJ, Kozicz T. Chronic fluoxetine or ketamine treatment differentially affects brain energy homeostasis which is not exacerbated in mice with trait suboptimal mitochondrial function. Eur J Neurosci. 2021 May; 53 (9):2986-3001 Epub 2020 July 21
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  2. Preston G, Emmerzaal T, Radenkovic S, Lanza IR, Oglesbee D, Morava E, Kozicz T. Cerebellar and multi-system metabolic reprogramming associated with trauma exposure and post-traumatic stress disorder (PTSD)-like behavior in mice. Neurobiol Stress. 2021 May; 14:100300 Epub 2021 Jan 23
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  3. Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries BBA, Deden AC, Leenders E, Kwint M, Stumpel CTRM, Stevens SJC, Vermeulen JR, van Harssel JVT, Bosch DGM, van Gassen KLI, van Binsbergen E, de Geus CM, Brackel H, Hempel M, Lessel D, Denecke J, Slavotinek A, Strober J, Crunk A, Folk L, Wentzensen IM, Yang H, Zou F, Millan F, Person R, Xie Y, Liu S, Ousager LB, Larsen M, Schultz-Rogers L, Morava E, Klee EW, Berry IR, Campbell J, Lindstrom K, Pruniski B, Neumeyer AM, Radley JA, Phornphutkul C, Schmidt B, Wilson WG, Ounap K, Reinson K, Pajusalu S, van Haeringen A, Ruivenkamp C, Cuperus R, Santos-Simarro F, Palomares-Bralo M, Pacio-Miguez M, Ritter A, Bhoj E, Tonne E, Tveten K, Cappuccio G, Brunetti-Pierri N, Rowe L, Bunn J, Saenz M, Platzer K, Mertens M, Caluseriu O, Nowaczyk MJM, Cohn RD, Kannu P, Alkhunaizi E, Chitayat D, Scherer SW, Brunner HG, Vissers LELM, Kleefstra T, Koolen DA, Weksberg R. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature. Am J Hum Genet. 2021 Apr 19 [Epub ahead of print]
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  4. Radio FC, Pang K, Ciolfi A, Levy MA, Hernandez-Garcia A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM Jr, Faivre L, Banka S, Wang T, Eichler EE, Priolo M, Dallapiccola B, Vissers LELM, Sadikovic B, Scott DA, Holder JL Jr, Tartaglia M. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. Am J Hum Genet. 2021 Mar 4; 108 (3):502-516 Epub 2021 Feb 16
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  5. Klee EW, Cousin MA, Pinto E Vairo F, Morales-Rosado JA, Macke EL, Jenkinson WG, Ferrer A, Schultz-Rogers LE, Olson RJ, Oliver GR, Sigafoos AN, Schwab TL, Zimmermann MT, Urrutia RA, Kaiwar C, Gupta A, Blackburn PR, Boczek NJ, Prochnow CA, Lowy RJ, Mulvihill LA, McAllister TM, Aoudia SL, Kruisselbrink TM, Gunderson LB, Kemppainen JL, Fisher LJ, Tarnowski JM, Hager MM, Kroc SA, Bertsch NL, Agre KE, Jackson JL, Macklin-Mantia SK, Murphree MI, Rust LM, Summer Bolster JM, Beck SA, Atwal PS, Ellingson MS, Barnett SS, Rasmussen KJ, Lahner CA, Niu Z, Hasadsri L, Ferber MJ, Marcou CA, Clark KJ, Pichurin PN, Deyle DR, Morava-Kozicz E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Farrugia G, Schimmenti LA, Stewart AK, Lazaridis KN. Impact of integrated translational research on clinical exome sequencing. Genet Med. 2021 Mar; 23 (3):498-507 Epub 2020 Nov 04
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  6. Muthusamy K, Boyer S, Patterson M, Bierau J, Wortmann S, Morava E. Neuroimaging Findings in Inosine Triphosphate Pyrophosphohydrolase (ITPase) Deficiency. Neurology. 2021 Feb 16 [Epub ahead of print]
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  7. Stamberger H, Hammer TB, Gardella E, Vlaskamp DRM, Bertelsen B, Mandelstam S, de Lange I, Zhang J, Myers CT, Fenger C, Afawi Z, Almanza Fuerte EP, Andrade DM, Balcik Y, Ben Zeev B, Bennett MF, Berkovic SF, Isidor B, Bouman A, Brilstra E, Busk OL, Cairns A, Caumes R, Chatron N, Dale RC, de Geus C, Edery P, Gill D, Granild-Jensen JB, Gunderson L, Gunning B, Heimer G, Helle JR, Hildebrand MS, Hollingsworth G, Kharytonov V, Klee EW, Koeleman BPC, Koolen DA, Korff C, Kury S, Lesca G, Lev D, Leventer RJ, Mackay MT, Macke EL, McEntagart M, Mohammad SS, Monin P, Montomoli M, Morava E, Moutton S, Muir AM, Parrini E, Procopis P, Ranza E, Reed L, Reif PS, Rosenow F, Rossi M, Sadleir LG, Sadoway T, Schelhaas HJ, Schneider AL, Shah K, Shalev R, Sisodiya SM, Smol T, Stumpel CTRM, Stuurman K, Symonds JD, Mau-Them FT, Verbeek N, Verhoeven JS, Wallace G, Yosovich K, Zarate YA, Zerem A, Zuberi SM, Guerrini R, Mefford HC, Patel C, Zhang YH, Moller RS, Scheffer IE. NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns. Genet Med. 2021 Feb; 23 (2):363-373 Epub 2020 Nov 04
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  8. Berry GT, Freeze HH, Morava E. Is X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy a congenital disorder of glycosylation? Epilepsia 2021 Feb; 62 (2):335-336 Epub 2021 Feb 11
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  9. Starosta RT, Boyer S, Tahata S, Raymond K, Lee HE, Wolfe LA, Lam C, Edmondson AC, Schwartz IVD, Morava E. Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up. Orphanet J Rare Dis. 2021 Jan 7; 16 (1):20 Epub 2021 Jan 07
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  10. Altassan R, Radenkovic S, Edmondson AC, Barone R, Brasil S, Cechova A, Coman D, Donoghue S, Falkenstein K, Ferreira V, Ferreira C, Fiumara A, Francisco R, Freeze H, Grunewald S, Honzik T, Jaeken J, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-da-Silva D, Pascoal C, Quelhas D, Raymond KM, Rymen D, Seroczynska M, Serrano M, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Voermans N, Witters P, Morava E. International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management. J Inherit Metab Dis. 2021 Jan; 44 (1):148-163 Epub 2020 Sept 15
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  11. Radenkovic S, Fitzpatrick-Schmidt T, Byeon SK, Madugundu AK, Saraswat M, Lichty A, Wong SYW, McGee S, Kubiak K, Ligezka A, Ranatunga W, Zhang Y, Wood T, Friez MJ, Clarkson K, Pandey A, Jones JR, Morava E. Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation. Mol Genet Metab. 2021 Jan; 132 (1):27-37 Epub 2020 Oct 17
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  12. Donoghue SE, White SM, Tan TY, Kowalski R, Morava E, Yaplito-Lee J. Galactose treatment of a PGM1 patient presenting with restrictive cardiomyopathy. JIMD Rep. 2021 Jan; 57 (1):29-37 Epub 2020 Oct 19
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  13. Muthusamy K, Hanna C, Johnson DR, Cramer CH, Tebben PJ, Libi SE, Poling GL, Lanpher BC, Morava E, Schimmenti LA. Growth hormone deficiency in a child with branchio-oto-renal spectrum disorder: Clinical evidence of EYA1 in pituitary development and a recommendation for pituitary function surveillance. Am J Med Genet A. 2021 Jan; 185 (1):261-266 Epub 2020 Oct 24
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  14. Cannata Serio M, Graham LA, Ashikov A, Larsen LE, Raymond K, Timal S, Le Meur G, Ryan M, Czarnowska E, Jansen JC, He M, Ficicioglu C, Pichurin P, Hasadsri L, Minassian B, Rugierri A, Kalimo H, Rios-Ocampo WA, Gilissen C, Rodenburg R, Jonker JW, Holleboom AG, Morava E, Veltman JA, Socha P, Stevens TH, Simons M, Lefeber DJ. Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease. Hepatology. 2020 Dec; 72 (6):1968-1986
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  15. Ferrer A, Starosta RT, Ranatunga W, Ungar D, Kozicz T, Klee E, Rust LM, Wick M, Morava E. Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype. Mol Genet Metab. 2020 Dec; 131 (4):424-429 Epub 2020 Nov 07
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  16. Ng BG, Eklund EA, Shiryaev SA, Dong YY, Abbott MA, Asteggiano C, Bamshad MJ, Barr E, Bernstein JA, Chelakkadan S, Christodoulou J, Chung WK, Ciliberto MA, Cousin J, Gardiner F, Ghosh S, Graf WD, Grunewald S, Hammond K, Hauser NS, Hoganson GE, Houck KM, Kohler JN, Morava E, Larson AA, Liu P, Madathil S, McCormack C, Meeks NJL, Miller R, Monaghan KG, Nickerson DA, Palculict TB, Papazoglu GM, Pletcher BA, Scheffer IE, Schenone AB, Schnur RE, Si Y, Rowe LJ, Serrano Russi AH, Russo RS, Thabet F, Tuite A, Villanueva MM, Wang RY, Webster RI, Wilson D, Zalan A, Wolfe LA, Rosenfeld JA, Rhodes L, Freeze HH, Undiagnosed Diseases Network, University of Washington Center for Mendelian Genomics (UW-CMG). Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions. J Inherit Metab Dis. 2020 Nov; 43 (6):1333-1348 Epub 2020 Aug 05
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  17. Qian Z, Van den Eynde J, Heymans S, Mertens L, Morava E. Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature. JIMD Rep. 2020 Nov; 56 (1):27-33 Epub 2020 Aug 19
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  18. Conte F, Morava E, Bakar NA, Wortmann SB, Poerink AJ, Grunewald S, Crushell E, Al-Gazali L, de Vries MC, Morkrid L, Hertecant J, Brocke Holmefjord KS, Kronn D, Feigenbaum A, Fingerhut R, Wong SY, van Scherpenzeel M, Voermans NC, Lefeber DJ. Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots. Mol Genet Metab. 2020 Sep - Oct; 131 (1-2):135-146 Epub 2020 Sept 17
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  19. Lefever E, Witters P, Gielen E, Vanclooster A, Meersseman W, Morava E, Cassiman D, Laurent MR. Hypophosphatasia in Adults: Clinical Spectrum and Its Association With Genetics and Metabolic Substrates. J Clin Densitom. 2020 Jul - Sep; 23 (3):340-348 Epub 2018 Dec 21
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  20. Vaes L, Tiller GE, Perez B, Boyer SW, Berry SA, Sarafoglou K, Morava E. PMM2-CDG caused by uniparental disomy: Case report and literature review. JIMD Rep. 2020 Jul; 54 (1):16-21 Epub 2020 Apr 28
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  21. Starosta RT, Tarnowski J, Vairo FPE, Pinto E Vairo F, Raymond K, Preston G, Morava E. Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) initially diagnosed as ALG6-CDG: Functional evidence for benignity of the ALG6 c.391T>C (p.Tyr131His) variant and further expanding the BBSOAS phenotype. Eur J Med Genet. 2020 Jul; 63 (7):103941 Epub 2020 May 11
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  22. Cechova A, Altassan R, Borgel D, Bruneel A, Correia J, Girard M, Harroche A, Kiec-Wilk B, Mohnike K, Pascreau T, Pawlinski L, Radenkovic S, Vuillaumier-Barrot S, Aldamiz-Echevarria L, Couce ML, Martins EG, Quelhas D, Morava E, de Lonlay P, Witters P, Honzik T. Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation. J Inherit Metab Dis. 2020 Jul; 43 (4):671-693 Epub 2020 Apr 21
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  23. Krzysciak W, Papiez M, Bak E, Morava E, Krzysciak P, Ligezka A, Gniadek A, Vyhouskaya P, Janeczko J. Sperm Antioxidant Biomarkers and Their Correlation with Clinical Condition and Lifestyle with Regard to Male Reproductive Potential. J Clin Med. 2020 Jun 8; 9 (6) Epub 2020 June 08
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  24. Witters P, Tahata S, Barone R, Ounap K, Salvarinova R, Gronborg S, Hoganson G, Scaglia F, Lewis AM, Mori M, Sykut-Cegielska J, Edmondson A, He M, Morava E. Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG. Genet Med. 2020 Jun; 22 (6):1102-1107 Epub 2020 Feb 27
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  25. Emmerzaal TL, Preston G, Geenen B, Verweij V, Wiesmann M, Vasileiou E, Gruter F, de Groot C, Schoorl J, de Veer R, Roelofs M, Arts M, Hendriksen Y, Klimars E, Donti TR, Graham BH, Morava E, Rodenburg RJ, Kozicz T. Impaired mitochondrial complex I function as a candidate driver in the biological stress response and a concomitant stress-induced brain metabolic reprogramming in male mice. Transl Psychiatry. 2020 Jun 1; 10 (1):176 Epub 2020 June 01
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  26. van Rijt WJ, Jager EA, Allersma DP, Aktuglu Zeybek AC, Bhattacharya K, Debray FG, Ellaway CJ, Gautschi M, Geraghty MT, Gil-Ortega D, Larson AA, Moore F, Morava E, Morris AA, Oishi K, Schiff M, Scholl-Burgi S, Tchan MC, Vockley J, Witters P, Wortmann SB, van Spronsen F, Van Hove JLK, Derks TGJ. Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency. Genet Med. 2020 May; 22 (5):908-916 Epub 2020 Jan 06
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  27. Morava E. Elevated sorbitol underlies a heritable neuropathy. Nat Genet 2020 May; 52 (5):469-470
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  28. Wilton KM, Morales-Rosado JA, Selcen D, Muthusamy K, Ewing S, Agre K, Nickels K, Klee EW, Ho ML, Morava E. Developmental brain abnormalities and acute encephalopathy in a patient with myopathy with extrapyramidal signs secondary to pathogenic variants in MICU1. JIMD Rep. 2020 May; 53 (1):22-28 Epub 2020 Mar 20
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  29. Klein Gunnewiek TM, Van Hugte EJH, Frega M, Guardia GS, Foreman K, Panneman D, Mossink B, Linda K, Keller JM, Schubert D, Cassiman D, Rodenburg R, Vidal Folch N, Oglesbee D, Perales-Clemente E, Nelson TJ, Morava E, Nadif Kasri N, Kozicz T. m.3243A > G-Induced Mitochondrial Dysfunction Impairs Human Neuronal Development and Reduces Neuronal Network Activity and Synchronicity. Cell Rep. 2020 Apr 21; 31 (3):107538
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  30. Slavotinek A, van Hagen JM, Kalsner L, Pai S, Davis-Keppen L, Ohden L, Weber YG, Macke EL, Klee EW, Morava E, Gunderson L, Person R, Liu S, Weiss M. Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures. Eur J Med Genet. 2020 Apr; 63 (4):103850 Epub 2020 Jan 16
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  31. Verheijen J, Wong SY, Rowe JH, Raymond K, Stoddard J, Delmonte OM, Bosticardo M, Dobbs K, Niemela J, Calzoni E, Pai SY, Choi U, Yamazaki Y, Comeau AM, Janssen E, Henderson L, Hazen M, Berry G, Rosenzweig SD, Aldhekri HH, He M, Notarangelo LD, Morava E. Defining a new immune deficiency syndrome: MAN2B2-CDG. J Allergy Clin Immunol 2020 Mar; 145 (3):1008-1011 Epub 2019 Nov 24
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  32. Verheijen J, Tahata S, Kozicz T, Witters P, Morava E. Therapeutic approaches in Congenital Disorders of Glycosylation (CDG) involving N-linked glycosylation: an update. Genet Med. 2020 Feb; 22 (2):268-279 Epub 2019 Sept 19
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  33. Moravej H, Altassan R, Jaeken J, Enns GM, Ellaway C, Balasubramaniam S, De Lonlay P, Coman D, Mercimek-Andrews S, Witters P, Morava E. Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients. JIMD Rep. 2020 Jan; 51 (1):76-81 Epub 2019 Nov 25
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  34. Tahata S, Gunderson L, Lanpher B, Morava E. Complex phenotypes in ALG12-congenital disorder of glycosylation (ALG12-CDG): Case series and review of the literature. Mol Genet Metab. 2019 Dec; 128 (4):409-414 Epub 2019 Aug 26
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  35. Iyer S, Sam FS, DiPrimio N, Preston G, Verheijen J, Murthy K, Parton Z, Tsang H, Lao J, Morava E, Perlstein EO. Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDG. Dis Model Mech. 2019 Nov 11; 12 (11)
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  36. Balakrishnan B, Verheijen J, Lupo A, Raymond K, Turgeon C, Yang Y, Carter KL, Whitehead KJ, Kozicz T, Morava E, Lai K. A novel phosphoglucomutase-deficient mouse model reveals aberrant glycosylation and early embryonic lethality. J Inherit Metab Dis. 2019 Sep; 42 (5):998-1007 Epub 2019 June 21
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  37. Hill LA, Sumer-Bayraktar Z, Lewis JG, Morava E, Thaysen-Andersen M, Hammond GL. N-Glycosylation influences human corticosteroid-binding globulin measurements. Endocr Connect. 2019 Aug; 8 (8):1136-1148
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  38. van den Boogert MAW, Larsen LE, Ali L, Kuil SD, Chong PLW, Loregger A, Kroon J, Schnitzler JG, Schimmel AWM, Peter J, Levels JHM, Steenbergen G, Morava E, Dallinga-Thie GM, Wevers RA, Kuivenhoven JA, Hand NJ, Zelcer N, Rader DJ, Stroes ESG, Lefeber DJ, Holleboom AG. N-Glycosylation Defects in Humans Lower Low-Density Lipoprotein Cholesterol Through Increased Low-Density Lipoprotein Receptor Expression. Circulation. 2019 Jul 23; 140 (4):280-292 Epub 2019 May 23
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  39. Radenkovic S, Bird MJ, Emmerzaal TL, Wong SY, Felgueira C, Stiers KM, Sabbagh L, Himmelreich N, Poschet G, Windmolders P, Verheijen J, Witters P, Altassan R, Honzik T, Eminoglu TF, James PM, Edmondson AC, Hertecant J, Kozicz T, Thiel C, Vermeersch P, Cassiman D, Beamer L, Morava E, Ghesquiere B. The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG. Am J Hum Genet. 2019 May 2; 104 (5):835-846 Epub 2019 Apr 11
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  40. Witters P, Honzik T, Bauchart E, Altassan R, Pascreau T, Bruneel A, Vuillaumier S, Seta N, Borgel D, Matthijs G, Jaeken J, Meersseman W, Cassiman D, Pascale de L, Morava E. Long-term follow-up in PMM2-CDG: are we ready to start treatment trials? Genet Med. 2019 May; 21 (5):1181-1188 Epub 2018 Oct 08
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  41. Chen J, Li X, Edmondson A, Meyers GD, Izumi K, Ackermann AM, Morava E, Ficicioglu C, Bennett MJ, He M. Increased Clinical Sensitivity and Specificity of Plasma Protein N-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation by Use of Flow Injection-Electrospray Ionization-Quadrupole Time-of-Flight Mass Spectrometry. Clin Chem. 2019 May; 65 (5):653-663 Epub 2019 Feb 15
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  42. Boon L, Ugarte-Berzal E, Martens E, Vandooren J, Rybakin V, Colau D, Gordon-Alonso M, van der Bruggen P, Stocker W, Becker-Pauly C, Witters P, Morava E, Jaeken J, Proost P, Opdenakker G. Propeptide glycosylation and galectin-3 binding decrease proteolytic activation of human proMMP-9/progelatinase B. FEBS J. 2019 Mar; 286 (5):930-945 Epub 2018 Nov 30
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  43. Blacker CJ, Frye MA, Morava E, Kozicz T, Veldic M. A Review of Epigenetics of PTSD in Comorbid Psychiatric Conditions. Genes (Basel). 2019 Feb 13; 10 (2)
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  44. Altassan R, Peanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grunewald S, Hernandez-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Ounap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczynska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E. International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up. J Inherit Metab Dis. 2019 Jan; 42 (1):5-28
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  45. Francisco R, Marques-da-Silva D, Brasil S, Pascoal C, Dos Reis Ferreira V, Morava E, Jaeken J. The challenge of CDG diagnosis. Mol Genet Metab. 2019 Jan; 126 (1):1-5 Epub 2018 Nov 09
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  46. Duvet S, Mouajjah D, Peanne R, Matthijs G, Raymond K, Jaeken J, Morava E, Foulquier F. Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients. Electrophoresis. 2018 Dec; 39 (24):3133-3141 Epub 2018 Aug 02
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  47. Radenkovic S, Witters P, Morava E. Central nervous involvement is common in PGM1-CDG. Mol Genet Metab. 2018 Nov; 125 (3):200-204 Epub 2018 Aug 21
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  48. Abu Bakar N, Voermans NC, Marquardt T, Thiel C, Janssen MCH, Hansikova H, Crushell E, Sykut-Cegielska J, Bowling F, MOrkrid L, Vissing J, Morava E, van Scherpenzeel M, Lefeber DJ. Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency. Transl Res. 2018 Sep; 199:62-76 Epub 2018 May 10
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  49. Kozicz T, Schene A, Morava E. Mitochondrial Etiology of Psychiatric Disorders: Is This the Full Story? JAMA Psychiatry 2018 May 1; 75 (5):527
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  50. Ferreira CR, Altassan R, Marques-Da-Silva D, Francisco R, Jaeken J, Morava E. Recognizable phenotypes in CDG. J Inherit Metab Dis. 2018 May; 41 (3):541-553 Epub 2018 Apr 13
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  51. Brasil S, Pascoal C, Francisco R, Marques-da-Silva D, Andreotti G, Videira PA, Morava E, Jaeken J, Dos Reis Ferreira V. CDG Therapies: From Bench to Bedside. Int J Mol Sci. 2018 Apr 27; 19 (5)
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  52. Gardeitchik T, Mohamed M, Ruzzenente B, Karall D, Guerrero-Castillo S, Dalloyaux D, van den Brand M, van Kraaij S, van Asbeck E, Assouline Z, Rio M, de Lonlay P, Scholl-Buergi S, Wolthuis DFGJ, Hoischen A, Rodenburg RJ, Sperl W, Urban Z, Brandt U, Mayr JA, Wong S, de Brouwer APM, Nijtmans L, Munnich A, Rotig A, Wevers RA, Metodiev MD, Morava E. Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies. Am J Hum Genet. 2018 Apr 5; 102 (4):685-695 Epub 2018 Mar 22
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  53. Gardeitchik T, Wyckmans J, Morava E. Complex Phenotypes in Inborn Errors of Metabolism: Overlapping Presentations in Congenital Disorders of Glycosylation and Mitochondrial Disorders. Pediatr Clin North Am. 2018 Apr; 65 (2):375-388
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  54. Witters P, Saada A, Honzik T, Tesarova M, Kleinle S, Horvath R, Goldstein A, Morava E. Revisiting mitochondrial diagnostic criteria in the new era of genomics. Genet Med. 2018 Apr; 20 (4):444-451 Epub 2017 Oct 26
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  55. Altassan R, Witters P, Saifudeen Z, Quelhas D, Jaeken J, Levtchenko E, Cassiman D, Morava E. Renal involvement in PMM2-CDG, a mini-review. Mol Genet Metab. 2018 Mar; 123 (3):292-296 Epub 2017 Nov 28
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  56. Francisco R, Pascoal C, Marques-da-Silva D, Morava E, Gole GA, Coman D, Jaeken J, Dos Reis Ferreira V. Keeping an eye on congenital disorders of O-glycosylation: a systematic literature review. J Inherit Metab Dis. 2018 Feb 1 Epub 2018 Feb 01
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  57. Althonaian N, Alsultan A, Morava E, Alfadhel M. Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review. JIMD Rep. 2018; 42:105-111 Epub 2018 Feb 15
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  58. Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Baric I, Bubshait DK, Burlina A, Christodoulou J, Chung WK, Colombo R, Darin N, Freisinger P, Garcia Silva MT, Grunewald S, Haack TB, van Hasselt PM, Hikmat O, Horster F, Isohanni P, Ramzan K, Kovacs-Nagy R, Krumina Z, Martin-Hernandez E, Mayr JA, McClean P, De Meirleir L, Naess K, Ngu LH, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor RW, Trubicka J, Tsiakas K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H, Morava E, Pronicka E, Wevers RA, de Brouwer AP, Wortmann SB. Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. Ann Neurol. 2017 Dec; 82 (6):1004-1015
    View PubMed
  59. Witters P, Cassiman D, Morava E. Nutritional Therapies in Congenital Disorders of Glycosylation (CDG). Nutrients. 2017 Nov 7; 9 (11) Epub 2017 Nov 07
    View PubMed
  60. Wong SY, Gadomski T, van Scherpenzeel M, Honzik T, Hansikova H, Holmefjord KSB, Mork M, Bowling F, Sykut-Cegielska J, Koch D, Hertecant J, Preston G, Jaeken J, Peeters N, Perez S, Nguyen DD, Crivelly K, Emmerzaal T, Gibson KM, Raymond K, Abu Bakar N, Foulquier F, Poschet G, Ackermann AM, He M, Lefeber DJ, Thiel C, Kozicz T, Morava E. Oral D-galactose supplementation in PGM1-CDG. Genet Med. 2017 Nov; 19 (11):1226-1235 Epub 2017 June 15
    View PubMed
  61. Peanne R, de Lonlay P, Foulquier F, Kornak U, Lefeber DJ, Morava E, Perez B, Seta N, Thiel C, Van Schaftingen E, Matthijs G, Jaeken J. Congenital disorders of glycosylation (CDG): Quo vadis? Eur J Med Genet. 2017 Oct 25 [Epub ahead of print]
    View PubMed
  62. Gadomski TE, Bolton M, Alfadhel M, Dvorak C, Ogunsakin OA, Nelson SL, Morava E. ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing. Am J Med Genet A. 2017 Oct; 173 (10):2772-2775 Epub 2017 Aug 04
    View PubMed
  63. de Freitas C, Dos Reis V, Silva S, Videira PA, Morava E, Jaeken J. Public and patient involvement in needs assessment and social innovation: a people-centred approach to care and research for congenital disorders of glycosylation. BMC Health Serv Res. 2017 Sep 26; 17 (1):682 Epub 2017 Sept 26
    View PubMed
  64. Balasubramaniam S, Riley LG, Bratkovic D, Ketteridge D, Manton N, Cowley MJ, Gayevskiy V, Roscioli T, Mohamed M, Gardeitchik T, Morava E, Christodoulou J. Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency. J Inherit Metab Dis. 2017 Sep; 40 (5):745-747 Epub 2017 Apr 13
    View PubMed
  65. Van Hoeve K, Mekahli D, Morava E, Levtchenko E, Witters P. Liver involvement in kidney disease and vice versa. Pediatr Nephrol. 2017 Jun 23 Epub 2017 June 23
    View PubMed
  66. Vals MA, Morava E, Teeaar K, Zordania R, Pajusalu S, Lefeber DJ, Ounap K. Three families with mild PMM2-CDG and normal cognitive development. Am J Med Genet A. 2017 Jun; 173 (6):1620-1624 Epub 2017 Apr 19
    View PubMed
  67. Boer LL, Morava E, Klein WM, Schepens-Franke AN, Oostra RJ. Sirenomelia: A Multi-systemic Polytopic Field Defect with Ongoing Controversies. Birth Defects Res. 2017 Jun 1; 109 (10):791-804 Epub 2017 May 16
    View PubMed
  68. Wade EM, Jenkins ZA, Daniel PB, Morgan T, Addor MC, Ades LC, Bertola D, Bohring A, Carter E, Cho TJ, de Geus CM, Duba HC, Fletcher E, Hadzsiev K, Hennekam RCM, Kim CA, Krakow D, Morava E, Neuhann T, Sillence D, Superti-Furga A, Veenstra-Knol HE, Wieczorek D, Wilson LC, Markie DM, Robertson SP. Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype. Am J Med Genet A. 2017 May 12 [Epub ahead of print]
    View PubMed
  69. Morelle W, Potelle S, Witters P, Wong S, Climer L, Lupashin V, Matthijs G, Gadomski T, Jaeken J, Cassiman D, Morava E, Foulquier F. Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects. J Clin Endocrinol Metab. 2017 Apr 1; 102 (4):1375-1386
    View PubMed
  70. Kariminejad A, Afroozan F, Bozorgmehr B, Ghanadan A, Akbaroghli S, Khorram Khorshid HR, Mojahedi F, Setoodeh A, Loh A, Tan YX, Escande-Beillard N, Malfait F, Reversade B, Gardeitchik T, Morava E. Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica. Int J Mol Sci. 2017 Mar 15; 18 (3)
    View PubMed
  71. Van Damme T, Gardeitchik T, Mohamed M, Guerrero-Castillo S, Freisinger P, Guillemyn B, Kariminejad A, Dalloyaux D, van Kraaij S, Lefeber DJ, Syx D, Steyaert W, De Rycke R, Hoischen A, Kamsteeg EJ, Wong SY, van Scherpenzeel M, Jamali P, Brandt U, Nijtmans L, Korenke GC, Chung BHY, Mak CCY, Hausser I, Kornak U, Fischer-Zirnsak B, Strom TM, Meitinger T, Alanay Y, Utine GE, Leung PKC, Ghaderi-Sohi S, Coucke P, Symoens S, De Paepe A, Thiel C, Haack TB, Malfait F, Morava E, Callewaert B, Wevers RA. Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa. Am J Hum Genet. 2017 Feb 2; 100 (2):216-227 Epub 2017 Jan 05
    View PubMed
  72. Stuhrman G, Perez Juanazo SJ, Crivelly K, Smith J, Andersson H, Morava E. False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency. JIMD Rep. 2017; 36:1-5 Epub 2017 Jan 12
    View PubMed
  73. Witters P, Debbold E, Crivelly K, Vande Kerckhove K, Corthouts K, Debbold B, Andersson H, Vannieuwenborg L, Geuens S, Baumgartner M, Kozicz T, Settles L, Morava E. Autism in patients with propionic acidemia. Mol Genet Metab. 2016 Dec; 119 (4):317-321 Epub 2016 Oct 31
    View PubMed
  74. Morava E, Tiemes V, Thiel C, Seta N, de Lonlay P, de Klerk H, Mulder M, Rubio-Gozalbo E, Visser G, van Hasselt P, Horovitz DDG, de Souza CFM, Schwartz IVD, Green A, Al-Owain M, Uziel G, Sigaudy S, Chabrol B, van Spronsen FJ, Steinert M, Komini E, Wurm D, Bevot A, Ayadi A, Huijben K, Dercksen M, Witters P, Jaeken J, Matthijs G, Lefeber DJ, Wevers RA. ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies. J Inherit Metab Dis. 2016 Sep; 39 (5):713-723 Epub 2016 June 10
    View PubMed
  75. Morava E, Tiemes V, Thiel C, Seta N, de Lonlay P, de Klerk H, Mulder M, Rubio-Gozalbo E, Visser G, van Hasselt P, Horovitz DDG, de Souza CFM, Schwartz IVD, Green A, Al-Owain M, Uziel G, Sigaudy S, Chabrol B, van Spronsen FJ, Steinert M, Komini E, Wurm D, Bevot A, Ayadi A, Huijben K, Dercksen M, Witters P, Jaeken J, Matthijs G, Lefeber DJ, Wevers RA. Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies. J Inherit Metab Dis. 2016 Sep; 39 (5):759
    View PubMed
  76. Wade EM, Daniel PB, Jenkins ZA, McInerney-Leo A, Leo P, Morgan T, Addor MC, Ades LC, Bertola D, Bohring A, Carter E, Cho TJ, Duba HC, Fletcher E, Kim CA, Krakow D, Morava E, Neuhann T, Superti-Furga A, Veenstra-Knol I, Wieczorek D, Wilson LC, Hennekam RC, Sutherland-Smith AJ, Strom TM, Wilkie AO, Brown MA, Duncan EL, Markie DM, Robertson SP. Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia. Am J Hum Genet. 2016 Aug 4; 99 (2):392-406 Epub 2016 July 15
    View PubMed
  77. Wong SY, Beamer LJ, Gadomski T, Honzik T, Mohamed M, Wortmann SB, Brocke Holmefjord KS, Mork M, Bowling F, Sykut-Cegielska J, Koch D, Ackermann A, Stanley CA, Rymen D, Zeharia A, Al-Sayed M, Marquardt T, Jaeken J, Lefeber D, Conrad DF, Kozicz T, Morava E. Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency. J Pediatr. 2016 Aug; 175:130-136.e8 Epub 2016 May 17
    View PubMed
  78. Jansen EJ, Timal S, Ryan M, Ashikov A, van Scherpenzeel M, Graham LA, Mandel H, Hoischen A, Iancu TC, Raymond K, Steenbergen G, Gilissen C, Huijben K, van Bakel NH, Maeda Y, Rodenburg RJ, Adamowicz M, Crushell E, Koenen H, Adams D, Vodopiutz J, Greber-Platzer S, Muller T, Dueckers G, Morava E, Sykut-Cegielska J, Martens GJ, Wevers RA, Niehues T, Huynen MA, Veltman JA, Stevens TH, Lefeber DJ. ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation. Nat Commun. 2016 May 27; 7:11600
    View PubMed
  79. Manoli I, Myles JG, Sloan JL, Carrillo-Carrasco N, Morava E, Strauss KA, Morton H, Venditti CP. A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency. Genet Med. 2016 Apr; 18 (4):396-404 Epub 2015 Aug 13
    View PubMed
  80. Jansen JC, Timal S, van Scherpenzeel M, Michelakakis H, Vicogne D, Ashikov A, Moraitou M, Hoischen A, Huijben K, Steenbergen G, van den Boogert MA, Porta F, Calvo PL, Mavrikou M, Cenacchi G, van den Bogaart G, Salomon J, Holleboom AG, Rodenburg RJ, Drenth JP, Huynen MA, Wevers RA, Morava E, Foulquier F, Veltman JA, Lefeber DJ. TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation. Am J Hum Genet. 2016 Feb 4; 98 (2):322-30 Epub 2016 Jan 28
    View PubMed
  81. Jansen JC, Cirak S, van Scherpenzeel M, Timal S, Reunert J, Rust S, Perez B, Vicogne D, Krawitz P, Wada Y, Ashikov A, Perez-Cerda C, Medrano C, Arnoldy A, Hoischen A, Huijben K, Steenbergen G, Quelhas D, Diogo L, Rymen D, Jaeken J, Guffon N, Cheillan D, van den Heuvel LP, Maeda Y, Kaiser O, Schara U, Gerner P, van den Boogert MA, Holleboom AG, Nassogne MC, Sokal E, Salomon J, van den Bogaart G, Drenth JP, Huynen MA, Veltman JA, Wevers RA, Morava E, Matthijs G, Foulquier F, Marquardt T, Lefeber DJ. CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation. Am J Hum Genet. 2016 Feb 4; 98 (2):310-21 Epub 2016 Jan 28
    View PubMed
  82. Hollak CE, Biegstraaten M, Baumgartner MR, Belmatoug N, Bembi B, Bosch A, Brouwers M, Dekker H, Dobbelaere D, Engelen M, Groenendijk MC, Lachmann R, Langendonk JG, Langeveld M, Linthorst G, Morava E, Poll-The BT, Rahman S, Rubio-Gozalbo ME, Spiekerkoetter U, Treacy E, Wanders R, Zschocke J, Hagendijk R. Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks. Orphanet J Rare Dis. 2016 Jan 25; 11:7
    View PubMed
  83. Rahman S, Baumgartner MR, Morava E, Patterson M, Peters V, Zschocke J. Peer review fraud-it's not big and it's not clever. J Inherit Metab Dis 2016 Jan; 39 (1):1-2 Epub 2015 Dec 11
    View PubMed
  84. Barends M, Verschuren L, Morava E, Nesbitt V, Turnbull D, McFarland R. Causes of Death in Adults with Mitochondrial Disease. JIMD Rep. 2016; 26:103-13 Epub 2015 Sept 10
    View PubMed
  85. van Scherpenzeel M, Steenbergen G, Morava E, Wevers RA, Lefeber DJ. High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation. Transl Res. 2015 Dec; 166 (6):639-649.e1 Epub 2015 Aug 08
    View PubMed
  86. Barthelemy F, Navarro C, Fayek R, Da Silva N, Roll P, Sigaudy S, Oshima J, Bonne G, Papadopoulou-Legbelou K, Evangeliou AE, Spilioti M, Lemerrer M, Wevers RA, Morava E, Robaglia-Schlupp A, Levy N, Bartoli M, De Sandre-Giovannoli A. Truncated prelamin A expression in HGPS-like patients: a transcriptional study. Eur J Hum Genet. 2015 Aug; 23 (8):1051-61 Epub 2015 Feb 04
    View PubMed
  87. Magner M, Dvorakova V, Tesarova M, Mazurova S, Hansikova H, Zahorec M, Brennerova K, Bzduch V, Spiegel R, Horovitz Y, Mandel H, Eminoglu FT, Mayr JA, Koch J, Martinelli D, Bertini E, Konstantopoulou V, Smet J, Rahman S, Broomfield A, Stojanovic V, Dionisi-Vici C, van Coster R, Morava E, Sperl W, Zeman J, Honzik T. TMEM70 deficiency: long-term outcome of 48 patients. J Inherit Metab Dis. 2015 May; 38 (3):417-26 Epub 2014 Oct 18
    View PubMed
  88. Danhauser K, Smeitink JA, Freisinger P, Sperl W, Sabir H, Hadzik B, Mayatepek E, Morava E, Distelmaier F. Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease. J Inherit Metab Dis. 2015 May; 38 (3):467-75 Epub 2015 Feb 17
    View PubMed
  89. Magner M, Dvorakova V, Tesarova M, Mazurova S, Hansikova H, Zahorec M, Brennerova K, Bzduch V, Spiegel R, Horovitz Y, Mandel H, Eminoglu FT, Mayr JA, Koch J, Martinelli D, Bertini E, Konstantopoulou V, Smet J, Rahman S, Broomfield A, Stojanovic V, Dionisi-Vici C, van Coster R, Morava E, Sperl W, Zeman J, Honzik T. Erratum to: TMEM70 deficiency: long-term outcome of 48 patients. J Inherit Metab Dis. 2015 May; 38 (3):583-4
    View PubMed
  90. Wortmann SB, van Hasselt PM, Baric I, Burlina A, Darin N, Horster F, Coker M, Ucar SK, Krumina Z, Naess K, Ngu LH, Pronicka E, Riordan G, Santer R, Wassmer E, Zschocke J, Schiff M, de Meirleir L, Alowain MA, Smeitink JA, Morava E, Kozicz T, Wevers RA, Wolf NI, Willemsen MA. Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome. Neuropediatrics. 2015 Apr; 46 (2):98-103 Epub 2015 Feb 02
    View PubMed
  91. Huigen MC, van der Graaf M, Morava E, Dassel AC, van Steensel MA, Seyger MM, Wevers RA, Willemsen MA. Cerebral lipid accumulation in Chanarin-Dorfman Syndrome. Mol Genet Metab. 2015 Jan; 114 (1):51-4 Epub 2014 Nov 04
    View PubMed
  92. Fischer B, Callewaert B, Schroter P, Coucke PJ, Schlack C, Ott CE, Morroni M, Homann W, Mundlos S, Morava E, Ficcadenti A, Kornak U. Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1. Mol Genet Metab. 2014 Aug; 112 (4):310-6 Epub 2014 May 21
    View PubMed
  93. Morava E. Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG. Mol Genet Metab. 2014 Aug; 112 (4):275-9 Epub 2014 June 21
    View PubMed
  94. Gardeitchik T, Mohamed M, Fischer B, Lammens M, Lefeber D, Lace B, Parker M, Kim KJ, Lim BC, Haberle J, Garavelli L, Jagadeesh S, Kariminejad A, Guerra D, Leao M, Keski-Filppula R, Brunner H, Nijtmans L, van den Heuvel B, Wevers R, Kornak U, Morava E. Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa. Eur J Hum Genet. 2014 Jul; 22 (7):888-95 Epub 2013 Aug 21
    View PubMed
  95. van Asbeck E, Ramalingam A, Dvorak C, Chen TJ, Morava E. Duplication at Xq28 involving IKBKG is associated with progressive macrocephaly, recurrent infections, ectodermal dysplasia, benign tumors, and neuropathy. Clin Dysmorphol. 2014 Jul; 23 (3):77-82
    View PubMed
  96. Wolthuis DF, van Asbeck E, Mohamed M, Gardeitchik T, Lim-Melia ER, Wevers RA, Morava E. Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature. Eur J Paediatr Neurol. 2014 Jul; 18 (4):511-5 Epub 2014 Feb 28
    View PubMed
  97. Janssen MC, de Kleine RH, van den Berg AP, Heijdra Y, van Scherpenzeel M, Lefeber DJ, Morava E. Successful liver transplantation and long-term follow-up in a patient with MPI-CDG. Pediatrics. 2014 Jul; 134 (1):e279-83
    View PubMed
  98. Ferriero R, Boutron A, Brivet M, Kerr D, Morava E, Rodenburg RJ, Bonafe L, Baumgartner MR, Anikster Y, Braverman NE, Brunetti-Pierri N. Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects. Ann Clin Transl Neurol. 2014 Jul; 1 (7):462-70 Epub 2014 June 19
    View PubMed
  99. Scott K, Gadomski T, Kozicz T, Morava E. Congenital disorders of glycosylation: new defects and still counting. J Inherit Metab Dis. 2014 Jul; 37 (4):609-17 Epub 2014 May 15
    View PubMed
  100. van de Ven S, Gardeitchik T, Kouwenberg D, Kluijtmans L, Wevers R, Morava E. Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia. J Inherit Metab Dis. 2014 May; 37 (3):383-90 Epub 2013 Oct 31
    View PubMed
  101. Van Asbeck E, Wolthuis DF, Mohamed M, Wevers RA, Korenke CG, Gardeitchik T, Morava E. A novel phenotype associated with cutis laxa, abnormal fat distribution, cardiomyopathy and cataract. Am J Med Genet A. 2014 Apr; 164A (4):1049-55 Epub 2014 Jan 23
    View PubMed
  102. Van Scherpenzeel M, Timal S, Rymen D, Hoischen A, Wuhrer M, Hipgrave-Ederveen A, Grunewald S, Peanne R, Saada A, Edvardson S, Gronborg S, Ruijter G, Kattentidt-Mouravieva A, Brum JM, Freckmann ML, Tomkins S, Jalan A, Prochazkova D, Ondruskova N, Hansikova H, Willemsen MA, Hensbergen PJ, Matthijs G, Wevers RA, Veltman JA, Morava E, Lefeber DJ. Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency. Brain. 2014 Apr; 137 (Pt 4):1030-8 Epub 2014 Feb 24
    View PubMed
  103. Baertling F, Rodenburg RJ, Schaper J, Smeitink JA, Koopman WJ, Mayatepek E, Morava E, Distelmaier F. A guide to diagnosis and treatment of Leigh syndrome. J Neurol Neurosurg Psychiatry. 2014 Mar; 85 (3):257-65 Epub 2013 June 14
    View PubMed
  104. Wolthuis DF, Janssen MC, Cassiman D, Lefeber DJ, Morava E. Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation. Expert Rev Mol Diagn. 2014 Mar; 14 (2):217-24 Epub 2014 Feb 13
    View PubMed
  105. Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S, Raymond K, He P, Ichikawa M, Veltman J, Huijben K, Shin YS, Sharma V, Adamowicz M, Lammens M, Reunert J, Witten A, Schrapers E, Matthijs G, Jaeken J, Rymen D, Stojkovic T, Laforet P, Petit F, Aumaitre O, Czarnowska E, Piraud M, Podskarbi T, Stanley CA, Matalon R, Burda P, Seyyedi S, Debus V, Socha P, Sykut-Cegielska J, van Spronsen F, de Meirleir L, Vajro P, DeClue T, Ficicioglu C, Wada Y, Wevers RA, Vanderschaeghe D, Callewaert N, Fingerhut R, van Schaftingen E, Freeze HH, Morava E, Lefeber DJ, Marquardt T. Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med. 2014 Feb 6; 370 (6):533-42
    View PubMed
  106. Distelmaier F, Huppke P, Pieperhoff P, Amunts K, Schaper J, Morava E, Mayatepek E, Kohlhase J, Karenfort M. Biotin-responsive Basal Ganglia disease: a treatable differential diagnosis of leigh syndrome. JIMD Rep. 2014; 13:53-7 Epub 2013 Oct 29
    View PubMed
  107. Mohamed M, Voet M, Gardeitchik T, Morava E. Cutis Laxa. Adv Exp Med Biol. 2014; 802:161-84
    View PubMed
  108. Kouwenberg D, Gardeitchik T, Mohamed M, Lefeber DJ, Morava E. Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation. Pediatr Dermatol. 2014 Jan-Feb; 31 (1):e1-5
    View PubMed
  109. Wortmann SB, Kluijtmans LA, Sequeira S, Wevers RA, Morava E. Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect. JIMD Rep. 2014; 16:1-6 Epub 2014 Apr 23
    View PubMed
  110. Wortmann SB, Duran M, Anikster Y, Barth PG, Sperl W, Zschocke J, Morava E, Wevers RA. Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. J Inherit Metab Dis. 2013 Nov; 36 (6):923-8 Epub 2013 Jan 08
    View PubMed
  111. Wortmann SB, Kluijtmans LA, Rodenburg RJ, Sass JO, Nouws J, van Kaauwen EP, Kleefstra T, Tranebjaerg L, de Vries MC, Isohanni P, Walter K, Alkuraya FS, Smuts I, Reinecke CJ, van der Westhuizen FH, Thorburn D, Smeitink JA, Morava E, Wevers RA. 3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients. J Inherit Metab Dis. 2013 Nov; 36 (6):913-21 Epub 2013 Jan 25
    View PubMed
  112. Dimopoulou A, Fischer B, Gardeitchik T, Schroter P, Kayserili H, Schlack C, Li Y, Brum JM, Barisic I, Castori M, Spaich C, Fletcher E, Mahayri Z, Bhat M, Girisha KM, Lachlan K, Johnson D, Phadke S, Gupta N, Simandlova M, Kabra M, David A, Nijtmans L, Chitayat D, Tuysuz B, Brancati F, Mundlos S, Van Maldergem L, Morava E, Wollnik B, Kornak U. Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa. Mol Genet Metab. 2013 Nov; 110 (3):352-61 Epub 2013 Aug 24
    View PubMed
  113. Wolthuis DF, van Asbeck EV, Kozicz T, Morava E. Abnormal fat distribution in PMM2-CDG. Mol Genet Metab. 2013 Nov; 110 (3):411-3 Epub 2013 Sept 07
    View PubMed
  114. Mohamed M, Ashikov A, Guillard M, Robben JH, Schmidt S, van den Heuvel B, de Brouwer AP, Gerardy-Schahn R, Deen PM, Wevers RA, Lefeber DJ, Morava E. Intellectual disability and bleeding diathesis due to deficient CMP--sialic acid transport. Neurology. 2013 Aug 13; 81 (7):681-7 Epub 2013 July 19
    View PubMed
  115. Janssen MC, van Engelen B, Kapusta L, Lammens M, van Dijk M, Fischer J, van der Graaf M, Wevers RA, Fahrleitner M, Zimmermann R, Morava E. Symptomatic lipid storage in carriers for the PNPLA2 gene. Eur J Hum Genet. 2013 Aug; 21 (8):807-15 Epub 2012 Dec 12
    View PubMed
  116. Thomeer HG, Morava E, Verbist BM, Cremers CW. Otological aspects and surgical outcome in a consanguineous family with a novel ANKH gene mutation. Int J Pediatr Otorhinolaryngol. 2013 Jul; 77 (7):1152-7 Epub 2013 May 31
    View PubMed
  117. Morava E, Kozicz T. Mitochondria and the economy of stress (mal)adaptation. Neurosci Biobehav Rev. 2013 May; 37 (4):668-80 Epub 2013 Feb 13
    View PubMed
  118. Linssen M, Mohamed M, Wevers RA, Lefeber DJ, Morava E. Thrombotic complications in patients with PMM2-CDG. Mol Genet Metab. 2013 May; 109 (1):107-11 Epub 2013 Feb 16
    View PubMed
  119. Zulfiqar M, Lin DD, Van der Graaf M, Barker PB, Fahrner JA, Marie S, Morava E, De Boer L, Willemsen MA, Vining E, Horska A, Engelke U, Wevers RA, Maegawa GH. Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency. J Magn Reson Imaging. 2013 Apr; 37 (4):974-80 Epub 2012 Oct 10
    View PubMed
  120. Kapusta L, Zucker N, Frenckel G, Medalion B, Ben Gal T, Birk E, Mandel H, Nasser N, Morgenstern S, Zuckermann A, Lefeber DJ, de Brouwer A, Wevers RA, Lorber A, Morava E. From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG). Heart Fail Rev. 2013 Mar; 18 (2):187-96
    View PubMed
  121. Horvers M, Anttonen AK, Lehesjoki AE, Morava E, Wortmann S, Vermeer S, van de Warrenburg BP, Willemsen MA. Marinesco-Sjogren syndrome due to SIL1 mutations with a comment on the clinical phenotype. Eur J Paediatr Neurol. 2013 Mar; 17 (2):199-203 Epub 2012 Oct 11
    View PubMed
  122. Funke S, Gardeitchik T, Kouwenberg D, Mohamed M, Wortmann SB, Korsch E, Adamowicz M, Al-Gazali L, Wevers RA, Horvath A, Lefeber DJ, Morava E. Perinatal and early infantile symptoms in congenital disorders of glycosylation. Am J Med Genet A. 2013 Mar; 161A (3):578-84 Epub 2013 Feb 07
    View PubMed
  123. Koene S, Wortmann SB, de Vries MC, Jonckheere AI, Morava E, de Groot IJ, Smeitink JA. Developing outcome measures for pediatric mitochondrial disorders: which complaints and limitations are most burdensome to patients and their parents? Mitochondrion. 2013 Jan; 13 (1):15-24 Epub 2012 Nov 17
    View PubMed
  124. de Boer L, Kluijtmans LA, Morava E. Primary Carnitine (OCTN2) Deficiency Without Neonatal Carnitine Deficiency. JIMD Rep. 2013; 10:39-40 Epub 2012 Dec 29
    View PubMed
  125. van de Loo KF, van Dongen L, Mohamed M, Gardeitchik T, Kouwenberg TW, Wortmann SB, Rodenburg RJ, Lefeber DJ, Morava E, Verhaak CM. Socio-emotional Problems in Children with CDG. JIMD Rep. 2013; 11:139-48 Epub 2013 June 04
    View PubMed
  126. Wolfe LA, Morava E, He M, Vockley J, Gibson KM. Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation. Am J Med Genet C Semin Med Genet. 2012 Nov 15; 160C (4):322-8 Epub 2012 Oct 11
    View PubMed
  127. Fischer B, Dimopoulou A, Egerer J, Gardeitchik T, Kidd A, Jost D, Kayserili H, Alanay Y, Tantcheva-Poor I, Mangold E, Daumer-Haas C, Phadke S, Peirano RI, Heusel J, Desphande C, Gupta N, Nanda A, Felix E, Berry-Kravis E, Kabra M, Wevers RA, van Maldergem L, Mundlos S, Morava E, Kornak U. Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Hum Genet. 2012 Nov; 131 (11):1761-73 Epub 2012 July 08
    View PubMed
  128. Hollak CE, de Sonnaville ES, Cassiman D, Linthorst GE, Groener JE, Morava E, Wevers RA, Mannens M, Aerts JM, Meersseman W, Akkerman E, Niezen-Koning KE, Mulder MF, Visser G, Wijburg FA, Lefeber D, Poorthuis BJ. Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients. Mol Genet Metab. 2012 Nov; 107 (3):526-33 Epub 2012 June 30
    View PubMed
  129. Timal S, Hoischen A, Lehle L, Adamowicz M, Huijben K, Sykut-Cegielska J, Paprocka J, Jamroz E, van Spronsen FJ, Korner C, Gilissen C, Rodenburg RJ, Eidhof I, Van den Heuvel L, Thiel C, Wevers RA, Morava E, Veltman J, Lefeber DJ. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. Hum Mol Genet. 2012 Oct 1; 21 (19):4151-61 Epub 2012 Apr 05
    View PubMed
  130. Morava E, Vodopiutz J, Lefeber DJ, Janecke AR, Schmidt WM, Lechner S, Item CB, Sykut-Cegielska J, Adamowicz M, Wierzba J, Zhang ZH, Mihalek I, Stockler S, Bodamer OA, Lehle L, Wevers RA. Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations. Pediatrics. 2012 Oct; 130 (4):e1034-9 Epub 2012 Sept 10
    View PubMed
  131. Barone R, Aiello C, Race V, Morava E, Foulquier F, Riemersma M, Passarelli C, Concolino D, Carella M, Santorelli F, Vleugels W, Mercuri E, Garozzo D, Sturiale L, Messina S, Jaeken J, Fiumara A, Wevers RA, Bertini E, Matthijs G, Lefeber DJ. DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. Ann Neurol. 2012 Oct; 72 (4):550-8
    View PubMed
  132. Wortmann SB, Champion MP, van den Heuvel L, Barth H, Trutnau B, Craig K, Lammens M, Schreuder MF, Taylor RW, Smeitink JA, Wevers RA, Rodenburg RJ, Morava E. Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction? Eur J Med Genet. 2012 Oct; 55 (10):552-6 Epub 2012 July 07
    View PubMed
  133. Wortmann SB, Vaz FM, Gardeitchik T, Vissers LE, Renkema GH, Schuurs-Hoeijmakers JH, Kulik W, Lammens M, Christin C, Kluijtmans LA, Rodenburg RJ, Nijtmans LG, Grunewald A, Klein C, Gerhold JM, Kozicz T, van Hasselt PM, Harakalova M, Kloosterman W, Baric I, Pronicka E, Ucar SK, Naess K, Singhal KK, Krumina Z, Gilissen C, van Bokhoven H, Veltman JA, Smeitink JA, Lefeber DJ, Spelbrink JN, Wevers RA, Morava E, de Brouwer AP. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet. 2012 Jun 10; 44 (7):797-802 Epub 2012 June 10
    View PubMed
  134. van Bon BW, Gilissen C, Grange DK, Hennekam RC, Kayserili H, Engels H, Reutter H, Ostergaard JR, Morava E, Tsiakas K, Isidor B, Le Merrer M, Eser M, Wieskamp N, de Vries P, Steehouwer M, Veltman JA, Robertson SP, Brunner HG, de Vries BB, Hoischen A. Cantu syndrome is caused by mutations in ABCC9. Am J Hum Genet. 2012 Jun 8; 90 (6):1094-101 Epub 2012 May 17
    View PubMed
  135. Binkhorst M, Wortmann SB, Funke S, Kozicz T, Wevers RA, Morava E. Glycosylation defects underlying fetal alcohol spectrum disorder: a novel pathogenetic model. "When the wine goes in, strange things come out" - S.T. Coleridge, The Piccolomini. J Inherit Metab Dis. 2012 May; 35 (3):399-405 Epub 2011 Dec 02
    View PubMed
  136. Mohamed M, Theodore M, Claahsen-van der Grinten H, van Herwaarden AE, Huijben K, van Dongen L, Kouwenberg D, Lefeber DJ, Wevers RA, Morava E. Thyroid function in PMM2-CDG: diagnostic approach and proposed management. Mol Genet Metab. 2012 Apr; 105 (4):681-3 Epub 2012 Feb 13
    View PubMed
  137. Zampatti S, Castori M, Fischer B, Ferrari P, Garavelli L, Dionisi-Vici C, Agolini E, Wischmeijer A, Morava E, Novelli G, Haberle J, Kornak U, Brancati F. De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. Am J Med Genet A. 2012 Apr; 158A (4):927-31 Epub 2012 Mar 12
    View PubMed
  138. Wortmann SB, Kluijtmans LA, Engelke UF, Wevers RA, Morava E. The 3-methylglutaconic acidurias: what's new? J Inherit Metab Dis. 2012 Jan; 35 (1):13-22 Epub 2010 Sept 30
    View PubMed
  139. van Beynum I, Morava E, Taher M, Rodenburg RJ, Karteszi J, Toth K, Szabados E. Cardiac arrest in kearns-sayre syndrome. JIMD Rep. 2012; 2:7-10 Epub 2011 Sept 06
    View PubMed
  140. Verstegen RH, Theodore M, van de Klerk H, Morava E. Lymphatic edema in congenital disorders of glycosylation. JIMD Rep. 2012; 4:113-6 Epub 2011 Oct 20
    View PubMed
  141. Bloem B, Xu L, Morava E, Faludi G, Palkovits M, Roubos EW, Kozicz T. Sex-specific differences in the dynamics of cocaine- and amphetamine-regulated transcript and nesfatin-1 expressions in the midbrain of depressed suicide victims vs. controls. Neuropharmacology. 2012 Jan; 62 (1):297-303 Epub 2011 July 22
    View PubMed
  142. Holleboom AG, Karlsson H, Lin RS, Beres TM, Sierts JA, Herman DS, Stroes ES, Aerts JM, Kastelein JJ, Motazacker MM, Dallinga-Thie GM, Levels JH, Zwinderman AH, Seidman JG, Seidman CE, Ljunggren S, Lefeber DJ, Morava E, Wevers RA, Fritz TA, Tabak LA, Lindahl M, Hovingh GK, Kuivenhoven JA. Heterozygosity for a loss-of-function mutation in GALNT2 improves plasma triglyceride clearance in man. Cell Metab. 2011 Dec 7; 14 (6):811-8
    View PubMed
  143. Achouitar S, Goldstein JL, Mohamed M, Austin S, Boyette K, Blanpain FM, Rehder CW, Kishnani PS, Wortmann SB, den Heijer M, Lefeber DJ, Wevers RA, Bali DS, Morava E. Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency. Mol Genet Metab. 2011 Dec; 104 (4):691-4 Epub 2011 Aug 26
    View PubMed
  144. Guillard M, Morava E, de Ruijter J, Roscioli T, Penzien J, van den Heuvel L, Willemsen MA, de Brouwer A, Bodamer OA, Wevers RA, Lefeber DJ. B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement. J Pediatr. 2011 Dec; 159 (6):1041-3.e2 Epub 2011 Sept 13
    View PubMed
  145. Theodore M, Morava E. Congenital disorders of glycosylation: sweet news. Curr Opin Pediatr. 2011 Dec; 23 (6):581-7
    View PubMed
  146. Lefeber DJ, de Brouwer AP, Morava E, Riemersma M, Schuurs-Hoeijmakers JH, Absmanner B, Verrijp K, van den Akker WM, Huijben K, Steenbergen G, van Reeuwijk J, Jozwiak A, Zucker N, Lorber A, Lammens M, Knopf C, van Bokhoven H, Grunewald S, Lehle L, Kapusta L, Mandel H, Wevers RA. Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation. PLoS Genet. 2011 Dec; 7 (12):e1002427 Epub 2011 Dec 29
    View PubMed
  147. Guillard M, Wada Y, Hansikova H, Yuasa I, Vesela K, Ondruskova N, Kadoya M, Janssen A, Van den Heuvel LP, Morava E, Zeman J, Wevers RA, Lefeber DJ. Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I. J Inherit Metab Dis. 2011 Aug; 34 (4):901-6 Epub 2011 Mar 23
    View PubMed
  148. Mohamed M, Kouwenberg D, Gardeitchik T, Kornak U, Wevers RA, Morava E. Metabolic cutis laxa syndromes. J Inherit Metab Dis. 2011 Aug; 34 (4):907-16 Epub 2011 Mar 23
    View PubMed
  149. Achouitar S, Mohamed M, Gardeitchik T, Wortmann SB, Sykut-Cegielska J, Ensenauer R, de Baulny HO, Ounap K, Martinelli D, de Vries M, McFarland R, Kouwenberg D, Theodore M, Wijburg F, Grunewald S, Jaeken J, Wevers RA, Nijtmans L, Elson J, Morava E. Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression. J Inherit Metab Dis. 2011 Aug; 34 (4):923-7 Epub 2011 May 04
    View PubMed
  150. Mohamed M, Guillard M, Wortmann SB, Cirak S, Marklova E, Michelakakis H, Korsch E, Adamowicz M, Koletzko B, van Spronsen FJ, Niezen-Koning KE, Matthijs G, Gardeitchik T, Kouwenberg D, Lim BC, Zeevaert R, Wevers RA, Lefeber DJ, Morava E. Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern. Biochim Biophys Acta. 2011 Jun; 1812 (6):691-8 Epub 2011 Mar 17
    View PubMed
  151. van den Broek L, Backx AP, Coolen H, Wijburg FA, Wevers R, Morava E, Neeleman C. Fatal coronary artery disease in an infant with severe mucopolysaccharidosis type I. Pediatrics. 2011 May; 127 (5):e1343-6 Epub 2011 Apr 04
    View PubMed
  152. Guillard M, Morava E, van Delft FL, Hague R, Korner C, Adamowicz M, Wevers RA, Lefeber DJ. Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II. Clin Chem. 2011 Apr; 57 (4):593-602 Epub 2011 Jan 27
    View PubMed
  153. Brunetti-Pierri N, Piccolo P, Morava E, Wevers RA, McGuirk M, Johnson YR, Urban Z, Dishop MK, Potocki L. Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome? Clin Dysmorphol. 2011 Apr; 20 (2):77-81
    View PubMed
  154. Kleefstra T, Wortmann SB, Rodenburg RJ, Bongers EM, Hadzsiev K, Noordam C, van den Heuvel LP, Nillesen WM, Hollody K, Gillessen-Kaesbach G, Lammens M, Smeitink JA, van der Burgt I, Morava E. Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway. Eur J Hum Genet. 2011 Feb; 19 (2):138-44 Epub 2010 Nov 10
    View PubMed
  155. Morava E, Kuhnisch J, Drijvers JM, Robben JH, Cremers C, van Setten P, Branten A, Stumpp S, de Jong A, Voesenek K, Vermeer S, Heister A, Claahsen-van der Grinten HL, O'Neill CW, Willemsen MA, Lefeber D, Deen PM, Kornak U, Kremer H, Wevers RA. Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family. J Clin Endocrinol Metab. 2011 Jan; 96 (1):E189-98 Epub 2010 Oct 13
    View PubMed
  156. Schreuder LT, Nijhuis-van der Sanden MW, de Hair A, Peters G, Wortmann S, Bok LA, Morava E. Successful use of albuterol in a patient with central core disease and mitochondrial dysfunction. J Inherit Metab Dis. 2010 Dec; 33 Suppl 3:S205-9 Epub 2010 May 05
    View PubMed
  157. Morava E, Wevers RA, Cantagrel V, Hoefsloot LH, Al-Gazali L, Schoots J, van Rooij A, Huijben K, van Ravenswaaij-Arts CM, Jongmans MC, Sykut-Cegielska J, Hoffmann GF, Bluemel P, Adamowicz M, van Reeuwijk J, Ng BG, Bergman JE, van Bokhoven H, Korner C, Babovic-Vuksanovic D, Willemsen MA, Gleeson JG, Lehle L, de Brouwer AP, Lefeber DJ. A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain. 2010 Nov; 133 (11):3210-20 Epub 2010 Sept 17
    View PubMed
  158. Engelke UF, Zijlstra FS, Mochel F, Valayannopoulos V, Rabier D, Kluijtmans LA, Perl A, Verhoeven-Duif NM, de Lonlay P, Wamelink MM, Jakobs C, Morava E, Wevers RA. Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency. Biochim Biophys Acta. 2010 Nov; 1802 (11):1028-35 Epub 2010 June 18
    View PubMed
  159. Albrecht B, de Brouwer AP, Lefeber DJ, Cremer K, Hausser I, Rossen N, Wortmann SB, Wevers RA, Kornak U, Morava E. MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking. Am J Med Genet A. 2010 Nov; 152A (11):2916-8
    View PubMed
  160. Kranendijk M, Struys EA, van Schaftingen E, Gibson KM, Kanhai WA, van der Knaap MS, Amiel J, Buist NR, Das AM, de Klerk JB, Feigenbaum AS, Grange DK, Hofstede FC, Holme E, Kirk EP, Korman SH, Morava E, Morris A, Smeitink J, Sukhai RN, Vallance H, Jakobs C, Salomons GS. IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science. 2010 Oct 15; 330 (6002):336 Epub 2010 Sept 16
    View PubMed
  161. Wortmann SB, Kremer BH, Graham A, Willemsen MA, Loupatty FJ, Hogg SL, Engelke UF, Kluijtmans LA, Wanders RJ, Illsinger S, Wilcken B, Cruysberg JR, Das AM, Morava E, Wevers RA. 3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy. Neurology. 2010 Sep 21; 75 (12):1079-83
    View PubMed
  162. Morava E, Gardeitchik T, Kozicz T, de Boer L, Koene S, de Vries MC, McFarland R, Roobol T, Rodenburg RJ, Verhaak CM. Depressive behaviour in children diagnosed with a mitochondrial disorder. Mitochondrion. 2010 Aug; 10 (5):528-33 Epub 2010 May 31
    View PubMed
  163. Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, Lehle L, Hombauer H, Adamowicz M, Swiezewska E, De Brouwer AP, Blumel P, Sykut-Cegielska J, Houliston S, Swistun D, Ali BR, Dobyns WB, Babovic-Vuksanovic D, van Bokhoven H, Wevers RA, Raetz CR, Freeze HH, Morava E, Al-Gazali L, Gleeson JG. SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell. 2010 Jul 23; 142 (2):203-17 Epub 2010 July 15
    View PubMed
  164. Schreuder L, Peters G, Nijhuis-van der Sanden R, Morava E. Aerobic exercise in children with oxidative phosphorylation defects. Neurol Int. 2010 Jun 21; 2 (1):e4 Epub 2010 June 21
    View PubMed
  165. Smits P, Mattijssen S, Morava E, van den Brand M, van den Brandt F, Wijburg F, Pruijn G, Smeitink J, Nijtmans L, Rodenburg R, van den Heuvel L. Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects. Eur J Hum Genet. 2010 Mar; 18 (3):324-9 Epub 2009 Oct 07
    View PubMed
  166. Tassini M, Zannolli R, Buoni S, Engelke U, Vivi A, Valensin G, Salomons GS, De Nicola A, Strambi M, Monti L, Morava E, Wevers RA, Hayek J. [(1)H] magnetic resonance spectroscopy of urine: diagnosis of a guanidinoacetate methyl transferase deficiency case. J Child Neurol. 2010 Jan; 25 (1):98-101 Epub 2009 May 21
    View PubMed
  167. Wortmann SB, Lefeber DJ, Dekomien G, Willemsen MA, Wevers RA, Morava E. Substrate deprivation therapy in juvenile Sandhoff disease. J Inherit Metab Dis. 2009 Dec; 32 Suppl 1:S307-11 Epub 2009 Nov 04
    View PubMed
  168. Morava E, Steuerwald U, Carrozzo R, Kluijtmans LA, Joensen F, Santer R, Dionisi-Vici C, Wevers RA. Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children. Mitochondrion. 2009 Nov; 9 (6):438-42 Epub 2009 Aug 08
    View PubMed
  169. Horster F, Garbade SF, Zwickler T, Aydin HI, Bodamer OA, Burlina AB, Das AM, De Klerk JBC, Dionisi-Vici C, Geb S, Gokcay G, Guffon N, Maier EM, Morava E, Walter JH, Schwahn B, Wijburg FA, Lindner M, Grunewald S, Baumgartner MR, Kolker S. Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters. J Inherit Metab Dis. 2009 Oct; 32 (5):630 Epub 2009 July 31
    View PubMed
  170. Guillard M, Dimopoulou A, Fischer B, Morava E, Lefeber DJ, Kornak U, Wevers RA. Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa. Biochim Biophys Acta. 2009 Sep; 1792 (9):903-14 Epub 2009 Jan 08
    View PubMed
  171. Morava E, Guillard M, Lefeber DJ, Wevers RA. Autosomal recessive cutis laxa syndrome revisited. Eur J Hum Genet. 2009 Sep; 17 (9):1099-110 Epub 2009 Apr 29
    View PubMed
  172. Guillard M, Gloerich J, Wessels HJ, Morava E, Wevers RA, Lefeber DJ. Automated measurement of permethylated serum N-glycans by MALDI-linear ion trap mass spectrometry. Carbohydr Res. 2009 Aug 17; 344 (12):1550-7 Epub 2009 June 16
    View PubMed
  173. Lefeber DJ, Schonberger J, Morava E, Guillard M, Huyben KM, Verrijp K, Grafakou O, Evangeliou A, Preijers FW, Manta P, Yildiz J, Grunewald S, Spilioti M, van den Elzen C, Klein D, Hess D, Ashida H, Hofsteenge J, Maeda Y, van den Heuvel L, Lammens M, Lehle L, Wevers RA. Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. Am J Hum Genet. 2009 Jul; 85 (1):76-86 Epub 2009 July 02
    View PubMed
  174. Hucthagowder V, Morava E, Kornak U, Lefeber DJ, Fischer B, Dimopoulou A, Aldinger A, Choi J, Davis EC, Abuelo DN, Adamowicz M, Al-Aama J, Basel-Vanagaite L, Fernandez B, Greally MT, Gillessen-Kaesbach G, Kayserili H, Lemyre E, Tekin M, Turkmen S, Tuysuz B, Yuksel-Konuk B, Mundlos S, Van Maldergem L, Wevers RA, Urban Z. Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Hum Mol Genet. 2009 Jun 15; 18 (12):2149-65 Epub 2009 Mar 25
    View PubMed
  175. Engelke UF, Tassini M, Hayek J, de Vries M, Bilos A, Vivi A, Valensin G, Buoni S, Zannolli R, Brussel W, Kremer B, Salomons GS, Veendrick-Meekes MJ, Kluijtmans LA, Morava E, Wevers RA. Guanidinoacetate methyltransferase (GAMT) deficiency diagnosed by proton NMR spectroscopy of body fluids. NMR Biomed. 2009 Jun; 22 (5):538-44
    View PubMed
  176. Koene S, Kozicz TL, Rodenburg RJ, Verhaak CM, de Vries MC, Wortmann S, van de Heuvel L, Smeitink JA, Morava E. Major depression in adolescent children consecutively diagnosed with mitochondrial disorder. J Affect Disord. 2009 Apr; 114 (1-3):327-32 Epub 2008 Aug 09
    View PubMed
  177. Morava E, Wosik HN, Sykut-Cegielska J, Adamowicz M, Guillard M, Wevers RA, Lefeber DJ, Cruysberg JR. Ophthalmological abnormalities in children with congenital disorders of glycosylation type I. Br J Ophthalmol. 2009 Mar; 93 (3):350-4 Epub 2008 Nov 19
    View PubMed
  178. Noordam C, Funke S, Knoers NV, Jira P, Wevers RA, Urban Z, Morava E. Decreased bone density and treatment in patients with autosomal recessive cutis laxa. Acta Paediatr. 2009 Mar; 98 (3):490-4 Epub 2008 Dec 04
    View PubMed
  179. Bonthuis D, Morava E, Booij LH, Driessen JJ. Stuve Wiedemann syndrome and related syndromes: case report and possible anesthetic complications. Paediatr Anaesth. 2009 Mar; 19 (3):212-7 Epub 2008 Dec 30
    View PubMed
  180. Wortmann SB, Rodenburg RJ, Jonckheere A, de Vries MC, Huizing M, Heldt K, van den Heuvel LP, Wendel U, Kluijtmans LA, Engelke UF, Wevers RA, Smeitink JA, Morava E. Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. Brain. 2009 Jan; 132 (Pt 1):136-46 Epub 2008 Nov 16
    View PubMed
  181. Wortmann SB, Zweers-van Essen H, Rodenburg RJ, van den Heuvel LP, de Vries MC, Rasmussen-Conrad E, Smeitink JA, Morava E. Mitochondrial energy production correlates with the age-related BMI. Pediatr Res. 2009 Jan; 65 (1):103-8
    View PubMed
  182. de Vries MC, Rodenburg RJ, Morava E, Lammens M, van den Heuvel LP, Korenke GC, Smeitink JA. Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note. J Inherit Metab Dis. 2008 Dec; 31 Suppl 2:S299-302 Epub 2008 May 20
    View PubMed
  183. Contopoulos-Ioannidis D, Evangeliou A, ter Laak H, de Vries B, Pfundt R, Scheffer H, Smeitink J, Tzoufi M, Makis A, Marinos E, Hess R, Adams D, Huizing M, Morava E. Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency. Am J Med Genet A. 2008 Dec 1; 146A (23):3100-3
    View PubMed
  184. Truin G, Guillard M, Lefeber DJ, Sykut-Cegielska J, Adamowicz M, Hoppenreijs E, Sengers RC, Wevers RA, Morava E. Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia. Mol Genet Metab. 2008 Aug; 94 (4):481-4 Epub 2008 June 20
    View PubMed
  185. Koene S, Kluijtmans LA, Wevers R, Mock D, Pasch M, Morava E. Biotin-sensitive 3-methylcrotonylglycinuria in a patient with severe growth delay, ectodermal abnormalities, neonatal progeroid appearance, and developmental delay. Clin Dysmorphol. 2008 Jul; 17 (3):195-8
    View PubMed
  186. Morava E, Wosik H, Karteszi J, Guillard M, Adamowicz M, Sykut-Cegielska J, Hadzsiev K, Wevers RA, Lefeber DJ. Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps. J Inherit Metab Dis. 2008 Jun; 31 (3):450-6 Epub 2008 May 20
    View PubMed
  187. Zwickler T, Lindner M, Aydin HI, Baumgartner MR, Bodamer OA, Burlina AB, Das AM, DeKlerk JB, Gokcay G, Grunewald S, Guffon N, Maier EM, Morava E, Geb S, Schwahn B, Walter JH, Wendel U, Wijburg FA, Muller E, Kolker S, Horster F. Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres. J Inherit Metab Dis. 2008 Jun; 31 (3):361-7 Epub 2008 May 27
    View PubMed
  188. Monnier N, Marty I, Faure J, Castiglioni C, Desnuelle C, Sacconi S, Estournet B, Ferreiro A, Romero N, Laquerriere A, Lazaro L, Martin JJ, Morava E, Rossi A, Van der Kooi A, de Visser M, Verschuuren C, Lunardi J. Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. Hum Mutat. 2008 May; 29 (5):670-8
    View PubMed
  189. Janssen AJ, Schuelke M, Smeitink JA, Trijbels FJ, Sengers RC, Lucke B, Wintjes LT, Morava E, van Engelen BG, Smits BW, Hol FA, Siers MH, Ter Laak H, van der Knaap MS, Van Spronsen FJ, Rodenburg RJ, van den Heuvel LP. Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system. Ann Neurol. 2008 Apr; 63 (4):473-81
    View PubMed
  190. Morava E, Lefeber DJ, Urban Z, de Meirleir L, Meinecke P, Gillessen Kaesbach G, Sykut-Cegielska J, Adamowicz M, Salafsky I, Ranells J, Lemyre E, van Reeuwijk J, Brunner HG, Wevers RA. Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation. Eur J Hum Genet. 2008 Jan; 16 (1):28-35 Epub 2007 Oct 31
    View PubMed
  191. Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, Budde B, Nurnberg P, Foulquier F, Lefeber D, Urban Z, Gruenewald S, Annaert W, Brunner HG, van Bokhoven H, Wevers R, Morava E, Matthijs G, Van Maldergem L, Mundlos S, ARCL Debre-type Study Group. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet. 2008 Jan; 40 (1):32-4 Epub 2007 Dec 23
    View PubMed
  192. Funke S, Morava E, Czako M, Vida G, Ertl T, Kosztolanyi G. [Metabolic bone disease in premature infants and genetic polymorphisms]. Orv Hetil. 2007 Oct 14; 148 (41):1957-65
    View PubMed
  193. Vermeer S, Kremer HP, Leijten QH, Scheffer H, Matthijs G, Wevers RA, Knoers NA, Morava E, Lefeber DJ. Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening. J Neurol. 2007 Oct; 254 (10):1356-8 Epub 2007 Aug 15
    View PubMed
  194. Heil SG, Hogeveen M, Kluijtmans LA, van Dijken PJ, van de Berg GB, Blom HJ, Morava E. Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type). J Inherit Metab Dis. 2007 Oct; 30 (5):811 Epub 2007 Sept 04
    View PubMed
  195. Assereto S, van Diggelen OP, Diogo L, Morava E, Cassandrini D, Carreira I, de Boode WP, Dilling J, Garcia P, Henriques M, Rebelo O, ter Laak H, Minetti C, Bruno C. Null mutations and lethal congenital form of glycogen storage disease type IV. Biochem Biophys Res Commun. 2007 Sep 21; 361 (2):445-50 Epub 2007 July 24
    View PubMed
  196. van de Glind G, de Vries M, Rodenburg R, Hol F, Smeitink J, Morava E. Resting muscle pain as the first clinical symptom in children carrying the MTTK A8344G mutation. Eur J Paediatr Neurol. 2007 Jul; 11 (4):243-6 Epub 2007 Feb 12
    View PubMed
  197. Morava E, Zeevaert R, Korsch E, Huijben K, Wopereis S, Matthijs G, Keymolen K, Lefeber DJ, De Meirleir L, Wevers RA. A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia. Eur J Hum Genet. 2007 Jun; 15 (6):638-45 Epub 2007 Mar 14
    View PubMed
  198. Adamowicz M, Ploski R, Rokicki D, Morava E, Gizewska M, Mierzewska H, Pollak A, Lefeber DJ, Wevers RA, Pronicka E. Transferrin hypoglycosylation in hereditary fructose intolerance: using the clues and avoiding the pitfalls. J Inherit Metab Dis. 2007 Jun; 30 (3):407 Epub 2007 Apr 24
    View PubMed
  199. Morava E, Bongers EM, Kress W, Sie L, Rodenburg R, van den Heuvel L, Brunner HG. Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: a new syndrome. Clin Dysmorphol. 2007 Apr; 16 (2):131-4
    View PubMed
  200. de Vries MC, Rodenburg RJ, Morava E, van Kaauwen EP, ter Laak H, Mullaart RA, Snoeck IN, van Hasselt PM, Harding P, van den Heuvel LP, Smeitink JA. Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations. Eur J Pediatr. 2007 Mar; 166 (3):229-34 Epub 2006 Sept 07
    View PubMed
  201. Carrozzo R, Dionisi-Vici C, Steuerwald U, Lucioli S, Deodato F, Di Giandomenico S, Bertini E, Franke B, Kluijtmans LA, Meschini MC, Rizzo C, Piemonte F, Rodenburg R, Santer R, Santorelli FM, van Rooij A, Vermunt-de Koning D, Morava E, Wevers RA. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain. 2007 Mar; 130 (Pt 3):862-74 Epub 2007 Feb 14
    View PubMed
  202. Wortmann SB, Rodenburg RJ, Backx AP, Schmitt E, Smeitink JA, Morava E. Early cardiac involvement in children carrying the A3243G mtDNA mutation. Acta Paediatr. 2007 Mar; 96 (3):450-1
    View PubMed
  203. Wopereis S, Grunewald S, Huijben KM, Morava E, Mollicone R, van Engelen BG, Lefeber DJ, Wevers RA. Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects. Clin Chem. 2007 Feb; 53 (2):180-7 Epub 2006 Dec 14
    View PubMed
  204. Wortmann SB, Rodenburg R, Schwahn B, Smeitink JA, Morava E. Distal joint contractures, mental retardation, characteristic face and growth retardation: Chitayat syndrome revisited. Genet Couns. 2007; 18 (1):119-23
    View PubMed
  205. Fischer J, Lefevre C, Morava E, Mussini JM, Laforet P, Negre-Salvayre A, Lathrop M, Salvayre R. The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. Nat Genet. 2007 Jan; 39 (1):28-30 Epub 2006 Dec 24
    View PubMed
  206. Phoenix C, Schaefer AM, Elson JL, Morava E, Bugiani M, Uziel G, Smeitink JA, Turnbull DM, McFarland R. A scale to monitor progression and treatment of mitochondrial disease in children. Neuromuscul Disord. 2006 Dec; 16 (12):814-20 Epub 2006 Nov 22
    View PubMed
  207. Morava E, van den Heuvel L, Hol F, de Vries MC, Hogeveen M, Rodenburg RJ, Smeitink JA. Mitochondrial disease criteria: diagnostic applications in children. Neurology. 2006 Nov 28; 67 (10):1823-6
    View PubMed
  208. Funke S, Morava E, Czako M, Vida G, Ertl T, Kosztolanyi G. Influence of genetic polymorphisms on bone disease of preterm infants. Pediatr Res. 2006 Nov; 60 (5):607-12 Epub 2006 Sept 20
    View PubMed
  209. Lonie L, Porter DE, Fraser M, Cole T, Wise C, Yates L, Wakeling E, Blair E, Morava E, Monaco AP, Ragoussis J. Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases. Hum Mutat. 2006 Nov; 27 (11):1160
    View PubMed
  210. Morava E, Hamel B, Hol F, Rodenburg R, Smeitink J. Mitochondrial dysfunction in Stuve-Wiedemann syndrome in a patient carrying an ND1 gene mutation. Am J Med Genet A. 2006 Oct 15; 140 (20):2248-50
    View PubMed
  211. Teszas A, Pfund Z, Morava E, Kosztolanyi G, Sistermans E, Wevers RA, Kellermayer R. Presenile cataract: consider cholestanol. Arch Ophthalmol. 2006 Oct; 124 (10):1490-2
    View PubMed
  212. Morava E, Rodenburg R, van Essen HZ, De Vries M, Smeitink J. Dietary intervention and oxidative phosphorylation capacity. J Inherit Metab Dis. 2006 Aug; 29 (4):589 Epub 2006 June 19
    View PubMed
  213. Willemsen M, Rodenburg RJ, Teszas A, van den Heuvel L, Kosztolanyi G, Morava E. Females with PDHA1 gene mutations: a diagnostic challenge. Mitochondrion. 2006 Jun; 6 (3):155-9 Epub 2006 May 19
    View PubMed
  214. Wopereis S, Abd Hamid UM, Critchley A, Royle L, Dwek RA, Morava E, Leroy JG, Wilcken B, Lagerwerf AJ, Huijben KM, Lefeber DJ, Rudd PM, Wevers RA. Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria. Biochim Biophys Acta. 2006 Jun; 1762 (6):598-607
    View PubMed
  215. Pillen S, Morava E, Van Keimpema M, Ter Laak HJ, De Vries MC, Rodenburg RJ, Zwarts MJ. Skeletal muscle ultrasonography in children with a dysfunction in the oxidative phosphorylation system. Neuropediatrics. 2006 Jun; 37 (3):142-7
    View PubMed
  216. Wortmann S, Rodenburg RJ, Huizing M, Loupatty FJ, de Koning T, Kluijtmans LA, Engelke U, Wevers R, Smeitink JA, Morava E. Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation. Mol Genet Metab. 2006 May; 88 (1):47-52 Epub 2006 Mar 09
    View PubMed
  217. Janssen AJ, Trijbels FJ, Sengers RC, Wintjes LT, Ruitenbeek W, Smeitink JA, Morava E, van Engelen BG, van den Heuvel LP, Rodenburg RJ. Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology. Clin Chem. 2006 May; 52 (5):860-71 Epub 2006 Mar 16
    View PubMed
  218. Morava E, Rodenburg RJ, Hol F, de Vries M, Janssen A, van den Heuvel L, Nijtmans L, Smeitink J. Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations. Am J Med Genet A. 2006 Apr 15; 140 (8):863-8
    View PubMed
  219. Morava E, Rodenburg R, Hol F, De Meirleir L, Seneca S, Busch R, van den Heuvel L, Smeitink J. Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome. Am J Med Genet A. 2006 Apr 1; 140 (7):752-6
    View PubMed
  220. Wopereis S, Lefeber DJ, Morava E, Wevers RA. Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: a review. Clin Chem. 2006 Apr; 52 (4):574-600 Epub 2006 Feb 23
    View PubMed
  221. Engelke UF, Kremer B, Kluijtmans LA, van der Graaf M, Morava E, Loupatty FJ, Wanders RJ, Moskau D, Loss S, van den Bergh E, Wevers RA. NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism. NMR Biomed. 2006 Apr; 19 (2):271-8
    View PubMed
  222. Albahri Z, Marklova E, Dedek P, Hojdikova H, Fiedler Z, Lefeber D, Wevers RA, Morava E, Wopereis S. CDG: a new case of a combined defect in the biosynthesis of N- and O-glycans. Eur J Pediatr. 2006 Mar; 165 (3):203-4 Epub 2006 Jan 14
    View PubMed
  223. Karteszi J, Kosztolanyi G, Czako M, Hadzsiev K, Morava E. Transient progeroid phenotype and lipodystrophy in mosaic polyploidy. Clin Dysmorphol. 2006 Jan; 15 (1):29-31
    View PubMed
  224. Morava E, Willemsen MA, Wopereis S, Ter Laak H, Lefeber D, Wevers RA, Cruysberg JR. High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome. Eur J Ophthalmol. 2006 Jan-Feb; 16 (1):190-4
    View PubMed
  225. Morava E, Hogeveen M, De Vries M, Ruitenbeek W, de Boode WP, Smeitink J. Normal serum alanine concentration differentiates transient neonatal lactic acidemia from an inborn error of energy metabolism. Biol Neonate. 2006; 90 (3):207-9 Epub 2006 May 29
    View PubMed
  226. Wopereis S, Morava E, Grunewald S, Adamowicz M, Huijben KM, Lefeber DJ, Wevers RA. Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups. Glycobiology. 2005 Dec; 15 (12):1312-9 Epub 2005 July 21
    View PubMed
  227. Tsien F, Morava E, Talarski A, Marble M. Phenotypic features of a boy with trisomy of 16q22-->qter due to paternal Y; 16 translocation. Clin Dysmorphol. 2005 Oct; 14 (4):177-81
    View PubMed
  228. Wopereis S, Morava E, Grunewald S, Mills PB, Winchester BG, Clayton P, Coucke P, Huijben KM, Wevers RA. A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics. Biochim Biophys Acta. 2005 Jun 30; 1741 (1-2):156-64 Epub 2004 Dec 09
    View PubMed
  229. Morava E, Dinopoulos A, Kroes HY, Rodenburg RJ, van Bokhoven H, van den Heuvel LP, Smeitink JA. Mitochondrial dysfunction in a patient with Joubert syndrome. Neuropediatrics. 2005 Jun; 36 (3):214-7
    View PubMed
  230. Morava E, Wopereis S, Coucke P, Gillessen-Kaesbach G, Voit T, Smeitink J, Wevers R, Grunewald S. Defective protein glycosylation in patients with cutis laxa syndrome. Eur J Hum Genet. 2005 Apr; 13 (4):414-21
    View PubMed
  231. Morava E, Wortmann SB, van Essen HZ, Liebrand van Sambeek R, Wevers R, van Diggelen OP. Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency. J Inherit Metab Dis. 2005; 28 (5):703-6
    View PubMed
  232. Czako M, Riegel M, Morava E, Bajnoczky K, Kosztolanyi G. Opitz "C" trigonocephaly-like syndrome in a patient with terminal deletion of 2p and partial duplication of 17q. Am J Med Genet A. 2004 Dec 15; 131 (3):310-2
    View PubMed
  233. Lemmers RJ, Wohlgemuth M, Frants RR, Padberg GW, Morava E, van der Maarel SM. Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy. Am J Hum Genet. 2004 Dec; 75 (6):1124-30 Epub 2004 Oct 04
    View PubMed
  234. Morava E, Sengers R, Ter Laak H, Van Den Heuvel L, Janssen A, Trijbels F, Cruysberg H, Boelen C, Smeitink J. Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome. Eur J Pediatr. 2004 Aug; 163 (8):467-71 Epub 2004 May 27
    View PubMed
  235. Morava E, Cser B, Karteszi J, Huijben K, Szonyi L, Kosztolanyi G, Wevers R. Screening for CDG type Ia in Joubert syndrome. Med Sci Monit. 2004 Aug; 10 (8):CR469-72 Epub 2004 July 23
    View PubMed
  236. Karteszi J, Hollody K, Bene J, Morava E, Hadzsiev K, Czako M, Melegh B, Kosztolanyi G. [Mutational analysis of the MECP2 gene by direct sequencing in Hungarian patients with Rett syndrome]. Orv Hetil. 2004 Apr 25; 145 (17):909-11
    View PubMed
  237. Engelke UF, Liebrand-van Sambeek ML, de Jong JG, Leroy JG, Morava E, Smeitink JA, Wevers RA. N-acetylated metabolites in urine: proton nuclear magnetic resonance spectroscopic study on patients with inborn errors of metabolism. Clin Chem. 2004 Jan; 50 (1):58-66 Epub 2003 Nov 18
    View PubMed
  238. Morava E, Jackson KE, Tsien F, Marble MR. Trisomy 1q43 syndrome: a consistent phenotype with macrocephaly, characteristic face, developmental delay and cardiac anomalies. Genet Couns. 2004; 15 (4):449-53
    View PubMed
  239. Wopereis S, Grunewald S, Morava E, Penzien JM, Briones P, Garcia-Silva MT, Demacker PN, Huijben KM, Wevers RA. Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis. Clin Chem. 2003 Nov; 49 (11):1839-45
    View PubMed
  240. Morava E, Czako M, Karteszi J, Cser B, Weissbecker K, Mehes K. Ulnar/fibular ray defect and brachydactyly in a family: a possible new autosomal dominant syndrome. Clin Dysmorphol. 2003 Jul; 12 (3):161-5
    View PubMed
  241. Robertson SP, Twigg SR, Sutherland-Smith AJ, Biancalana V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava E, Newbury-Ecob R, Orstavik KH, Quarrell OW, Schwartz CE, Shears DJ, Suri M, Kendrick-Jones J, Wilkie AO, OPD-spectrum Disorders Clinical Collaborative Group. Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet. 2003 Apr; 33 (4):487-91 Epub 2003 Mar 03
    View PubMed
  242. Morava E, Bartsch O, Czako M, Frensel A, Kalscheuer V, Karteszi J, Kosztolanyi G. Small inherited terminal duplication of 7q with hydrocephalus, cleft palate, joint contractures, and severe hypotonia. Clin Dysmorphol. 2003 Apr; 12 (2):123-7
    View PubMed
  243. Morava E, Illes T, Weisenbach J, Karteszi J, Kosztolanyi G. Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families. Am J Med Genet A. 2003 Jan 30; 116A (3):272-7
    View PubMed
  244. Morava E, Kosztolanyi G, Engelke UF, Wevers RA. Reversal of clinical symptoms and radiographic abnormalities with protein restriction and ascorbic acid in alkaptonuria. Ann Clin Biochem. 2003 Jan; 40 (Pt 1):108-11
    View PubMed
  245. Morava E, Bartsch O, Czako M, Frensel A, Karteszi J, Kosztolanyi GY. A girl with cutaneous hyperpigmentation, cafe au lait spots and ring chromosome 15 without significant deletion. Genet Couns. 2003; 14 (3):337-42
    View PubMed
  246. Morava E, Hol FA, Janssen A, Smeitink J. Tall stature and progressive overweight in mitochondrial encephalopathy. J Inherit Metab Dis. 2003; 26 (7):720-2
    View PubMed
  247. Lacassie Y, Morava E, LaMotta I. Provisional new syndrome of MR/MCA with evolving phenotype. Am J Med Genet. 2002 Nov 22; 113 (2):213-7
    View PubMed
  248. Morava E, Lacassie Y, King A, Illes T, Marble M. Scoliosis in velo-cardio-facial syndrome. J Pediatr Orthop. 2002 Nov-Dec; 22 (6):780-3
    View PubMed
  249. Morava E, Karteszi J, Weisenbach J, Caliebe A, Mundlos S, Mehes K. Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. Eur J Pediatr. 2002 Nov; 161 (11):619-22 Epub 2002 Oct 09
    View PubMed
  250. Morava E, Varga L, Czako M, Decsi T. [Maternal toxoplasma infection and mosaic trisomy 8 syndrome]. Orv Hetil. 2002 Mar 17; 143 (11):563-5
    View PubMed
  251. Czako M, Riegel M, Morava E, Schinzel A, Kosztolanyi G. Patient with rheumatoid arthritis and MCA/MR syndrome due to unbalanced der(18) transmission of a paternal translocation t(18;20)(p11.1;p11.1). Am J Med Genet. 2002 Mar 15; 108 (3):226-8
    View PubMed
  252. Morava E, Eduard P, Toth G, Dobos M, Melegh B, Kosztolanyi G. [Mucolipidosis II with unusual biochemical parameters]. Orv Hetil. 2002 Jan 20; 143 (3):135-7
    View PubMed
  253. Shah MK, Morava E, Gill W, Marble MR. Transposition of the great arteries and hypocalcemia in a patient with fetal hydantoin syndrome. J Perinatol. 2002 Jan; 22 (1):89-90
    View PubMed
  254. Morava E, Czako M, Aszmann M, Illes T, Kosztolanyi GY. Tissue specific mosaicism of trisomy 9 in a patient with severe torsion scoliosis. Genet Couns. 2002; 13 (4):455-7
    View PubMed
  255. Halmai V, Szasz K, Morava E, Illes T. [Decreased bone mineral density as a risk factor in the development of spinal deformities in neurofibromatosis]. Orv Hetil. 2001 Dec 30; 142 (52):2893-7
    View PubMed
  256. Karteszi J, Morava E, Czako M, Gati I, Czopf J, Kosztolanyi G, Melegh B. [Kennedy disease in a patient with progressive speech disorder]. Orv Hetil. 2001 Sep 2; 142 (35):1915-7
    View PubMed
  257. Riegel M, Morava E, Czako M, Kosztolanyi G, Schinzel A. Distal deletion, del(2)(q33.3q33.3), in a patient with severe growth deficiency and minor anomalies. Am J Med Genet. 2001 Aug 15; 102 (3):227-30
    View PubMed
  258. Horvath A, Morava E, Toth G, Czako M, Melegh B, Kosztolanyi G. [Vascular diseases, spina bifida and schizophrenia in a single family associated with the heterozygote mutation of the heat-sensitive variant of methylenetetrahydrofolate reductase]. Orv Hetil. 2001 Jul 8; 142 (27):1445-8
    View PubMed
  259. Toth G, Morava E, Bene J, Selhorst JJ, Overmars H, Vreken P, Molnar J, Farkas V, Melegh B. Carnitine-responsive carnitine insufficiency in a case of mtDNA 8993T>C mutation associated Leigh syndrome. J Inherit Metab Dis. 2001 Jun; 24 (3):421-2
    View PubMed
  260. Morava E, Smith C, Pierce M, Andersson HC. Management dilemmas in patients with hereditary renal adysplasia. J La State Med Soc. 2001 Jan; 153 (1):27-30
    View PubMed
  261. Morava E, Czako M, Melegh B, Kosztolanyi G. Velo-cardio-facial phenotype and deletion of 22q11.2 in Hungarian children. Clin Genet. 2000 Nov; 58 (5):403-5
    View PubMed
  262. Morava E, Masszi G, Czako M, Toth G, Melegh B, Kosztolanyi G. [22q11.2 chromosome deletion and velo-cardio-facial syndrome in a patient with tetralogy of Fallot]. Orv Hetil. 2000 Aug 20; 141 (34):1873-5
    View PubMed
  263. Harangi F, Morava E, Adonyi M. [Occurrence of X-linked ichthyosis along with atopy]. Orv Hetil. 2000 Jun 4; 141 (23):1301-3
    View PubMed
  264. Morava E, Vegh E, Bona I, Kiss I, Oroszi B, Jozan P. Health risk factors and mortality in Pecs City, Hungary in the 1990s. Cent Eur J Public Health. 2000 May; 8 (2):109-13
    View PubMed
  265. Morava E, Hermann R, Czako M, Soltesz G, Kosztolanyi G. Isodicentric Y chromosome in an Ullrich-Turner patient without virilization. Am J Med Genet. 2000 Mar 13; 91 (2):99-101
    View PubMed
  266. Herczegfalvi A, Toth G, Gyurus P, Morava E, Endreffy E, Fodor F, Mechler F, Laszlo A, Rasko I, Melegh B. Deletion patterns of dystrophin gene in Hungarian patients with Duchenne/Becker muscular dystrophies. Neuromuscul Disord. 1999 Dec; 9 (8):552-4
    View PubMed
  267. Gyurus P, Molnar J, Melegh B, Toth G, Morava E, Kosztolanyi G, Mehes K. Trinucleotide repeat polymorphism at five disease loci in mixed Hungarian population. Am J Med Genet. 1999 Nov 26; 87 (3):245-50
    View PubMed
  268. Coenen MJ, van den Heuvel LP, Nijtmans LG, Morava E, Marquardt I, Girschick HJ, Trijbels FJ, Grivell LA, Smeitink JA. SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency. Biochem Biophys Res Commun. 1999 Nov 19; 265 (2):339-44
    View PubMed
  269. Kovacs E, Morava E, Nadasi E, Czako M, Melegh B, Kosztolanyi G. [Molecular biologic screening test (PCR) for fragile X syndrome]. Orv Hetil. 1998 Dec 27; 139 (52):3121-3
    View PubMed
  270. Marble M, Morava E, Lopez R, Pierce M, Pierce R. Report of a new patient with transposition of the great arteries with deletion of 22q11.2. Am J Med Genet. 1998 Jul 24; 78 (4):317-8
    View PubMed
  271. Morava E, Gill W, Pierce M. [Extracorporeal membrane oxygenation in neonatology: review of the use of the method]. Orv Hetil. 1998 Feb 22; 139 (8):403-6
    View PubMed
  272. Morava E, Kosztolanyi G. [Alpha thalassemia/metal retardation syndrome--a new X-chromosome linked recessive genetically inherited symptom complex]. Orv Hetil. 1996 Dec 15; 137 (50):2799-801
    View PubMed
  273. Morava E, Storcz J, Kosztolanyi G. X-linked mental retardation syndrome: three brothers with the Brooks-Wisniewski-Brown syndrome. Am J Med Genet. 1996 Jul 12; 64 (1):59-62
    View PubMed
  274. Morava E, Adamovich K, Czeizel AE. Dandy-Walker malformation and polydactyly: a possible expression of hydrolethalus syndrome. Clin Genet. 1996 Apr; 49 (4):211-5
    View PubMed
  275. Melegh B, Pap M, Morava E, Molnar D, Dani M, Kurucz J. Carnitine-dependent changes of metabolic fuel consumption during long-term treatment with valproic acid. J Pediatr. 1994 Aug; 125 (2):317-21
    View PubMed