Publications

1. Rowe AD, Stoway SD, Ahlman H, Arora V, Caggana M, Fornari A, Hagar A, Hall PL, Marquardt GC, Miller BJ, Nixon C, Norgan AP, Orsini JJ, Pettersen RD, Piazza AL, Schubauer NR, Smith AC, Tang H, Tavakoli NP, Wei S, Zetterstrom RH, Currier RJ, Morkrid L, Rinaldo P. A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools. Int J Neonatal Screen. 2021 Apr 23; 7 (2)
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2. Perales-Clemente E, Hewitt AL, Studinski AL, Tillema JM, Laxen WJ, Oglesbee D, Graff AH, Rinaldo P, Lanpher BC. Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D-2-hydroxyglutaric aciduria. JIMD Rep. 2021 Mar; 58 (1):21-28 Epub 2020 Nov 20
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3. Poskanzer SA, Schultz MJ, Turgeon CT, Vidal-Folch N, Liedtke K, Oglesbee D, Gavrilov DK, Tortorelli S, Matern D, Rinaldo P, Bennett JT, Thies JM, Chang IJ, Beck AE, Raymond K, Allenspach EJ, Lam C. Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature. Am J Med Genet A. 2021 Jan; 185 (1):213-218 Epub 2020 Oct 12
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4. Kirby T, Walters DC, Shi X, Turgeon C, Rinaldo P, Arning E, Ashcraft P, Bottiglieri T, DiBacco M, Pearl PL, Roullet JB, Gibson KM. Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency. Orphanet J Rare Dis. 2020 Sep 23; 15 (1):261 Epub 2020 Sept 23
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5. Tangeraas T, Saeves I, Klingenberg C, Jorgensen J, Kristensen E, Gunnarsdottir G, Hansen EV, Strand J, Lundman E, Ferdinandusse S, Salvador CL, Woldseth B, Bliksrud YT, Sagredo C, Olsen OE, Berge MC, Tromborg AK, Ziegler A, Zhang JH, Sorgjerd LK, Ytre-Arne M, Hogner S, Lovoll SM, Klovstad Olavsen MR, Navarrete D, Gaup HJ, Lilje R, Zetterstrom RH, Stray-Pedersen A, Rootwelt T, Rinaldo P, Rowe AD, Pettersen RD. Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses. Int J Neonatal Screen. 2020 Sep; 6 (3):51 Epub 2020 June 27
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6. Tang H, Matteson J, Rinaldo P, Tortorelli S, Currier R, Sciortino S. The Clinical Impact of CLIR Tools toward Rapid Resolution of Post-Newborn Screening Confirmatory Testing for X-Linked Adrenoleukodystrophy in California. Int J Neonatal Screen. 2020 Sep; 6 (3):62 Epub 2020 Aug 05
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7. Tang H, Matteson J, Rinaldo P, Tortorelli S, Currier R, Sciortino S. The Clinical Impact of CLIR Tools toward Rapid Resolution of Post-Newborn Screening Confirmatory Testing for X-Linked Adrenoleukodystrophy in California. Int J Neonatal Screen. 2020 Aug 5; 6 (3) Epub 2020 Aug 05
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8. Schultz MJ, Netzel BC, Singh RH, Pino GB, Gavrilov DK, Oglesbee D, Raymond KM, Rinaldo P, Tortorelli S, Smith WE, Matern D. Laboratory monitoring of patients with hereditary tyrosinemia type I. Mol Genet Metab. 2020 Aug; 130 (4):247-254 Epub 2020 June 06
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9. Vidarsdottir H, Thorkelsson T, Halldorsson TI, Bjarnason R, Geirsson RT, Rinaldo P, Franzson L. Does metabolomic profile differ with regard to birth weight? Pediatr Res. 2020 Jun 29 Epub 2020 June 29
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10. Tangeraas T, Saeves I, Klingenberg C, Jorgensen J, Kristensen E, Gunnarsdottir G, Hansen EV, Strand J, Lundman E, Ferdinandusse S, Salvador CL, Woldseth B, Bliksrud YT, Sagredo C, Olsen OE, Berge MC, Tromborg AK, Ziegler A, Zhang JH, Sorgjerd LK, Ytre-Arne M, Hogner S, Lovoll SM, Klovstad Olavsen MR, Navarrete D, Gaup HJ, Lilje R, Zetterstrom RH, Stray-Pedersen A, Rootwelt T, Rinaldo P, Rowe AD, Pettersen RD. Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses. Int J Neonatal Screen. 2020 Jun 27; 6 (3) Epub 2020 June 27
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11. Guenzel AJ, Turgeon CT, Nickander KK, White AL, Peck DS, Pino GB, Studinski AL, Prasad VK, Kurtzberg J, Escolar ML, Lasio MLD, Pellegrino JE, Sakonju A, Hickey RE, Shallow NM, Ream MA, Orsini JJ, Gelb MH, Raymond K, Gavrilov DK, Oglesbee D, Rinaldo P, Tortorelli S, Matern D. The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease. Genet Med. 2020 Jun; 22 (6):1108-1118 Epub 2020 Feb 24
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12. Kirby T, Walters DC, Brown M, Jansen E, Salomons GS, Turgeon C, Rinaldo P, Arning E, Ashcraft P, Bottiglieri T, Roullet JB, Gibson KM. Correction to: Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes. Metab Brain Dis. 2020 Jun; 35 (5):849-850
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13. Gavrilov DK, Piazza AL, Pino G, Turgeon C, Matern D, Oglesbee D, Raymond K, Tortorelli S, Rinaldo P. The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin Metabolism. Int J Neonatal Screen. 2020 Jun; 6 (2):33 Epub 2020 Apr 10
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14. Sanders KA, Gavrilov DK, Oglesbee D, Raymond KM, Tortorelli S, Hopwood JJ, Lorey F, Majumdar R, Kroll CA, McDonald AM, Lacey JM, Turgeon CT, Tucker JN, Tang H, Currier R, Isaya G, Rinaldo P, Matern D. A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders. Int J Neonatal Screen. 2020 Jun; 6 (2) Epub 2020 May 30
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15. Brown M, Turgeon C, Rinaldo P, Pop A, Salomons GS, Roullet JB, Gibson KM. Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency. JIMD Rep. 2020 May; 53 (1):29-38 Epub 2020 Feb 26
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16. Kirby T, Walters DC, Brown M, Jansen E, Salomons GS, Turgeon C, Rinaldo P, Arning E, Ashcraft P, Bottiglieri T, Roullet JB, Gibson KM. Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes. Metab Brain Dis. 2020 Apr; 35 (4):601-614 Epub 2020 Mar 14
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17. Peck DS, Lacey JM, White AL, Pino G, Studinski AL, Fisher R, Ahmad A, Spencer L, Viall S, Shallow N, Siemon A, Hamm JA, Murray BK, Jones KL, Gavrilov D, Oglesbee D, Raymond K, Matern D, Rinaldo P, Tortorelli S. Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I. Int J Neonatal Screen. 2020 Mar; 6 (1):10 Epub 2020 Feb 07
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18. Peck DS, Lacey JM, White AL, Pino G, Studinski AL, Fisher R, Ahmad A, Spencer L, Viall S, Shallow N, Siemon A, Hamm JA, Murray BK, Jones KL, Gavrilov D, Oglesbee D, Raymond K, Matern D, Rinaldo P, Tortorelli S. Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I. Int J Neonatal Screen. 2020 Feb 7; 6 (1) Epub 2020 Feb 07
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19. Pino G, Conboy E, Tortorelli S, Minnich S, Nickander K, Lacey J, Peck D, Studinski A, White A, Gavrilov D, Rinaldo P, Matern D, Oglesbee D, Giugliani R, Burin M, Raymond K. Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria. Mol Genet Metab. 2020 Feb; 129 (2):106-110 Epub 2019 Nov 05
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20. Brown M, Turgeon C, Rinaldo P, Roullet JB, Gibson KM. Temporal metabolomics in dried bloodspots suggests multipathway disruptions in aldh5a1(-/-) mice, a model of succinic semialdehyde dehydrogenase deficiency. Mol Genet Metab. 2019 Dec; 128 (4):397-408 Epub 2019 Oct 31
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21. Li Y, Chen HS, Shaheen M, Joo DJ, Amiot BP, Rinaldo P, Nyberg SL. Cold storage of porcine hepatocyte spheroids for spheroid bioartificial liver. Xenotransplantation. 2019 Jul; 26 (4):e12512 Epub 2019 Apr 10
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22. Vidal-Folch N, Gavrilov D, Raymond K, Rinaldo P, Tortorelli S, Matern D, Oglesbee D. Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy. Clin Chem. 2018 Dec; 64 (12):1753-1761 Epub 2018 Oct 23
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23. Tortorelli S, Eckerman JS, Orsini JJ, Stevens C, Hart J, Hall PL, Alexander JJ, Gavrilov D, Oglesbee D, Raymond K, Matern D, Rinaldo P. Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease. Genet Med. 2018 Aug; 20 (8):840-846 Epub 2017 Nov 02
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24. Minter Baerg MM, Stoway SD, Hart J, Mott L, Peck DS, Nett SL, Eckerman JS, Lacey JM, Turgeon CT, Gavrilov D, Oglesbee D, Raymond K, Tortorelli S, Matern D, Morkrid L, Rinaldo P. Precision newborn screening for lysosomal disorders. Genet Med. 2018 Aug; 20 (8):847-854 Epub 2017 Nov 09
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25. Merritt JL 2nd, Brody LL, Pino G, Rinaldo P. Newborn screening for proximal urea cycle disorders: Current evidence supporting recommendations for newborn screening. Mol Genet Metab. 2018 Jun; 124 (2):109-113 Epub 2018 Apr 20
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26. Maase R, Skrinska V, Younes N, Hassan L, Mitri R, Matern D, Rinaldo P, Turgeon C. A rapid screening method for the measurement of neonatal total homocysteine in dried blood spots by liquid chromatography-tandem mass spectrometry International Journal of Neonatal Screening. 2017 Dec; 3 (4):32
    
27. Majumdar R, Yori A, Rush PW, Raymond K, Gavrilov D, Tortorelli S, Matern D, Rinaldo P, Feldman GL, Oglesbee D. Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria. Mol Genet Genomic Med. 2017 Nov; 5 (6):795-799 Epub 2017 Sept 11
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28. Vidal-Folch N, Milosevic D, Majumdar R, Gavrilov D, Matern D, Raymond K, Rinaldo P, Tortorelli S, Abraham RS, Oglesbee D. A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn Screening. J Mol Diagn. 2017 Sep; 19 (5):755-765
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29. Elgilani F, Mao SA, Glorioso JM, Yin M, Iankov ID, Singh A, Amiot B, Rinaldo P, Marler RJ, Ehman RL, Grompe M, Lillegard JB, Hickey RD, Nyberg SL. Chronic Phenotype Characterization of a Large-Animal Model of Hereditary Tyrosinemia Type 1. Am J Pathol. 2017 Jan; 187 (1):33-41 Epub 2016 Nov 14
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30. Tortorelli S, Turgeon CT, Gavrilov DK, Oglesbee D, Raymond KM, Rinaldo P, Matern D. Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry. Clin Chem. 2016 Sep; 62 (9):1248-54 Epub 2016 July 20
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31. Hickey RD, Mao SA, Glorioso J, Elgilani F, Amiot B, Chen H, Rinaldo P, Marler R, Jiang H, DeGrado TR, Suksanpaisan L, O'Connor MK, Freeman BL, Ibrahim SH, Peng KW, Harding CO, Ho CS, Grompe M, Ikeda Y, Lillegard JB, Russell SJ, Nyberg SL. Curative ex vivo liver-directed gene therapy in a pig model of hereditary tyrosinemia type 1. Sci Transl Med. 2016 Jul 27; 8 (349):349ra99
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32. Wong D, Tortorelli S, Bishop L, Sellars EA, Schimmenti LA, Gallant N, Prada CE, Hopkin RJ, Leslie ND, Berry SA, Rosenblatt DS, Fair AL, Matern D, Raymond K, Oglesbee D, Rinaldo P, Gavrilov D. Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening. Genet Med. 2016 Feb; 18 (2):162-7 Epub 2015 Apr 09
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33. Huemer M, Kozich V, Rinaldo P, Baumgartner MR, Merinero B, Pasquini E, Ribes A, Blom HJ. Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines. J Inherit Metab Dis. 2015 Nov; 38 (6):1007-19 Epub 2015 Mar 12
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34. Turgeon CT, Orsini JJ, Sanders KA, Magera MJ, Langan TJ, Escolar ML, Duffner P, Oglesbee D, Gavrilov D, Tortorelli S, Rinaldo P, Raymond K, Matern D. Measurement of psychosine in dried blood spots--a possible improvement to newborn screening programs for Krabbe disease. J Inherit Metab Dis. 2015 Sep; 38 (5):923-9 Epub 2015 Mar 12
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35. Randall M, Rolf C, Gibson SM, Hall PL, Rinaldo P, Davis GJ. Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Adulthood: A Potential Diagnosis in a Patient with Mental Status Changes Suspected of Drug Toxicity. J Forensic Sci. 2015 Jul; 60: (4)1101-3.
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36. Morkrid L, Rowe AD, Elgstoen KB, Olesen JH, Ruijter G, Hall PL, Tortorelli S, Schulze A, Kyriakopoulou L, Wamelink MM, van de Kamp JM, Salomons GS, Rinaldo P. Continuous age- and sex-adjusted reference intervals of urinary markers for cerebral creatine deficiency syndromes: a novel approach to the definition of reference intervals. Clin Chem. 2015 May; 61 (5):760-8 Epub 2015 Mar 10
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37. Matern D, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P, Tortorelli S. Newborn screening for lysosomal storage disorders. Semin Perinatol. 2015 Apr; 39: (3)206-16.
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38. Turgeon CT, Moser AB, Morkrid L, Magera MJ, Gavrilov DK, Oglesbee D, Raymond K, Rinaldo P, Matern D, Tortorelli S. Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy. Mol Genet Metab. 2015 Jan; 114 (1):46-50 Epub 2014 Nov 27
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39. Hall PL, Marquardt G, McHugh DM, Currier RJ, Tang H, Stoway SD, Rinaldo P. Postanalytical tools improve performance of newborn screening by tandem mass spectrometry. Genet Med. 2014 Dec; 16 (12):889-95 Epub 2014 May 29
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40. Hickey RD, Mao SA, Glorioso J, Lillegard JB, Fisher JE, Amiot B, Rinaldo P, Harding CO, Marler R, Finegold MJ, Grompe M, Nyberg SL. Fumarylacetoacetate hydrolase deficient pigs are a novel large animal model of metabolic liver disease. Stem Cell Res. 2014 Jul; 13 (1):144-53 Epub 2014 May 14
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41. Liu H, Yu Y, Glorioso J, Mao S, Rodysil B, Amiot BP, Rinaldo P, Nyberg SL. Cold storage of rat hepatocyte spheroids. Cell Transplant. 2014; 23(7):819-30. Epub 2013 Mar 5
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42. Oglesbee D, Kroll C, Gakh O, Deutsch EC, Lynch DR, Gavrilova R, Tortorelli S, Raymond K, Gavrilov D, Rinaldo P, Matern D, Isaya G. High-throughput immunoassay for the biochemical diagnosis of Friedreich ataxia in dried blood spots and whole blood. Clin Chem. 2013 Oct; 59(10):1461-9. Epub 2013 Jul 09.
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43. Hall P, Michels V, Gavrilov D, Matern D, Oglesbee D, Raymond K, Rinaldo P, Tortorelli S. Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome. Mol Genet Metab. 2013 Sep-Oct; 110(1-2):176-8. Epub 2013 Apr 10.
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44. Yu Y, Liu H, Ikeda Y, Amiot BP, Rinaldo P, Duncan SA, Nyberg SL. Hepatocyte-like cells differentiated from human induced pluripotent stem cells: relevance to cellular therapies. Stem Cell Res. 2012 Nov; 9 (3):196-207 Epub 2012 June 28
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45. Larochelle J, Alvarez F, Bussieres JF, Chevalier I, Dallaire L, Dubois J, Faucher F, Fenyves D, Goodyer P, Grenier A, Holme E, Laframboise R, Lambert M, Lindstedt S, Maranda B, Melancon S, Merouani A, Mitchell J, Parizeault G, Pelletier L, Phan V, Rinaldo P, Scott CR, Scriver C, Mitchell GA. Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Quebec. Mol Genet Metab. 2012 Sep; 107(1-2):49-54. Epub 2012 Jul 13.
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46. Marquardt G, Currier R, McHugh DM, Gavrilov D, Magera MJ, Matern D, Oglesbee D, Raymond K, Rinaldo P, Smith EH, Tortorelli S, Turgeon CT, Lorey F, Wilcken B, Wiley V, Greed LC, Lewis B, Boemer F, Schoos R, Marie S, Vincent MF, Sica YC, Domingos MT, Al-Thihli K, Sinclair G, Al-Dirbashi OY, Chakraborty P, Dymerski M, Porter C, Manning A, Seashore MR, Quesada J, Reuben A, Chrastina P, Hornik P, Atef Mandour I, Atty Sharaf SA, Bodamer O, Dy B, Torres J, Zori R, Cheillan D, Vianey-Saban C, Ludvigson D, Stembridge A, Bonham J, Downing M, Dotsikas Y, Loukas YL, Papakonstantinou V, Zacharioudakis GS, Barath A, Karg E, Franzson L, Jonsson JJ, Breen NN, Lesko BG, Berberich SL, Turner K, Ruoppolo M, Scolamiero E, Antonozzi I, Carducci C, Caruso U, Cassanello M, la Marca G, Pasquini E, Di Gangi IM, Giordano G, Camilot M, Teofoli F, Manos SM, Peterson CK, Mayfield Gibson SK, Sevier DW, Lee SY, Park HD, Khneisser I, Browning P, Gulamali-Majid F, Watson MS, Eaton RB, Sahai I, Ruiz C, Torres R, Seeterlin MA, Stanley EL, Hietala A, McCann M, Campbell C, Hopkins PV, de Sain-Van der Velden MG, Elvers B, Morrissey MA, Sunny S, Knoll D, Webster D, Frazier DM, McClure JD, Sesser DE, Willis SA, Rocha H, Vilarinho L, John C, Lim J, Caldwell SG, Tomashitis K, Castineiras Ramos DE, Cocho de Juan JA, Rueda Fernandez I, Yahyaoui Macias R, Egea-Mellado JM, Gonzalez-Gallego I, Delgado Pecellin C, Garcia-Valdecasas Bermejo MS, Chien YH, Hwu WL, Childs T, McKeever CD, Tanyalcin T, Abdulrahman M, Queijo C, Lemes A, Davis T, Hoffman W, Baker M, Hoffman GL. Enhanced interpretation of newborn screening results without analyte cutoff values. Genet Med. 2012 Jul; 14(7):648-55. Epub 2012 Feb 16.
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47. Bennett MJ, Rinaldo P, Wilcken B, Pass KA, Watson MS, Wanders RJ. Newborn screening for metabolic disorders: how are we doing, and where are we going? Clin Chem. 2012 Feb; 58(2):324-31. Epub 2011 Aug 24.
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48. Sarafoglou K, Matern D, Redlinger-Grosse K, Bentler K, Gaviglio A, Harding CO, Rinaldo P. Siblings with mitochondrial acetoacetyl-CoA thiolase deficiency not identified by newborn screening. Pediatrics. 2011 Jul; 128(1):e246-50. Epub 2011 Jun 13.
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49. McHugh D, Cameron CA, Abdenur JE, Abdulrahman M, Adair O, Al Nuaimi SA, Ahlman H, Allen JJ, Antonozzi I, Archer S, Au S, Auray-Blais C, Baker M, Bamforth F, Beckmann K, Pino GB, Berberich SL, Binard R, Boemer F, Bonham J, Breen NN, Bryant SC, Caggana M, Bryant SC, Caldwell SG, Camilot M, Campbell C, Carducci C, Bryant SC, Caggana M, Bryant SC, Caldwell SG, Camilot M, Campbell C, Carducci C, Cariappa R, Carlisle C, Caruso U, Cassanello M, Castilla AM, Ramos DE, Chakraborty P, Chandrasekar R, Ramos AC, Cheillan D, Chien YH, Childs TA, Chrastina P, Sica YC, de Juan JA, Colandre ME, Espinoza VC, Corso G, Currier R, Cyr D, Czuczy N, D'Apolito O, Davis T, de Sain-Van der Velden MG, Delgado Pecellin C, Di Gangi IM, Di Stefano CM, Dotsikas Y, Downing M, Downs SM, Dy B, Dymerski M, Rueda I, Elvers B, Eaton R, Eckerd BM, El Mougy F, Eroh S, Espada M, Evans C, Fawbush S, Fijolek KF, Fisher L, Franzson L, Frazier DM, Garcia LR, Bermejo MS, Gavrilov D, Gerace R, Giordano G, Irazabal YG, Greed LC, Grier R, Grycki E, Gu X, Gulamali-Majid F, Hagar AF, Han L, Hannon WH, Haslip C, Hassan FA, He M, Hietala A, Himstedt L, Hoffman GL, Hoffman W, Hoggatt P, Hopkins PV, Hougaard DM, Hughes K, Hunt PR, Hwu WL, Hynes J, Ibarra-Gonzalez I, Ingham CA, Ivanova M, Jacox WB, John C, Johnson JP, Jonsson JJ, Karg E, Kasper D, Klopper B, Katakouzinos D, Khneisser I, Knoll D, Kobayashi H, Koneski R, Kozich V, Kouapei R, Kohlmueller D, Kremensky I, la Marca G, Lavochkin M, Lee SY, Lehotay DC, Lemes A, Lepage J, Lesko B, Lewis B, Lim C, Linard S, Lindner M, Lloyd-Puryear MA, Lorey F, Loukas YL, Luedtke J, Maffitt N, Magee JF, Manning A, Manos S, Marie S, Hadachi SM, Marquardt G, Martin SJ, Matern D, Mayfield Gibson SK, Mayne P, McCallister TD, McCann M, McClure J, McGill JJ, McKeever CD, McNeilly B, Morrissey MA, Moutsatsou P, Mulcahy EA, Nikoloudis D, Norgaard-Pedersen B, Oglesbee D, Oltarzewski M, Ombrone D, Ojodu J, Papakonstantinou V, Reoyo SP, Park HD, Pasquali M, Pasquini E, Patel P, Pass KA, Peterson C, Pettersen RD, Pitt JJ, Poh S, Pollak A, Porter C, Poston PA, Price RW, Queijo C, Quesada J, Randell E, Ranieri E, Raymond K, Reddic JE, Reuben A, Ricciardi C, Rinaldo P, Rivera JD, Roberts A, Rocha H, Roche G, Greenberg CR, Mellado JM, Juan-Fita MJ, Ruiz C, Ruoppolo M, Rutledge SL, Ryu E, Saban C, Sahai I, Garcia-Blanco MI, Santiago-Borrero P, Schenone A, Schoos R, Schweitzer B, Scott P, Seashore MR, Seeterlin MA, Sesser DE, Sevier DW, Shone SM, Sinclair G, Skrinska VA, Stanley EL, Strovel ET, Jones AL, Sunny S, Takats Z, Tanyalcin T, Teofoli F, Thompson JR, Tomashitis K, Domingos MT, Torres J, Torres R, Tortorelli S, Turi S, Turner K, Tzanakos N, Valiente AG, Vallance H, Vela-Amieva M, Vilarinho L, von Dobeln U, Vincent MF, Vorster BC, Watson MS, Webster D, Weiss S, Wilcken B, Wiley V, Williams SK, Willis SA, Woontner M, Wright K, Yahyaoui R, Yamaguchi S, Yssel M, Zakowicz WM. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet Med. 2011 Mar; 13 (3):230-54
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50. Turgeon CT, Magera MJ, Cuthbert CD, Loken PR, Gavrilov DK, Tortorelli S, Raymond KM, Oglesbee D, Rinaldo P, Matern D. Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry. Clin Chem. 2010 Nov; 56 (11):1686-95 Epub 2010 Aug 31
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51. Tortorelli S, Turgeon CT, Lim JS, Baumgart S, Day-Salvatore DL, Abdenur J, Bernstein JA, Lorey F, Lichter-Konecki U, Oglesbee D, Raymond K, Matern D, Schimmenti L, Rinaldo P, Gavrilov DK. Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry. J Pediatr. 2010 Aug; 157: (2)271-5.
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52. Smith EH, Thomas C, McHugh D, Gavrilov D, Raymond K, Rinaldo P, Tortorelli S, Matern D, Highsmith WE, Oglesbee D. Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing. Mol Genet Metab. 2010 Jul; 100 (3):241-50 Epub 2010 Apr 08
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53. Puckett RL, Lorey F, Rinaldo P, Lipson MH, Matern D, Sowa ME, Levine S, Chang R, Wang RY, Abdenur JE. Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms. Mol Genet Metab. 2010 Jun; 100(2):136-42. Epub 2009 Dec 05.
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54. Loken PR, Magera MJ, Introne W, Tortorelli S, Gavrilov D, Oglesbee D, Rinaldo P, Matern D, Raymond K. Homogentisic acid interference in routine urine creatinine determination. Mol Genet Metab. 2010 May; 100(1):103-4. Epub 2010 Jan 21.
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55. Calonge N, Green NS, Rinaldo P, Lloyd-Puryear M, Dougherty D, Boyle C, Watson M, Trotter T, Terry SF, Howell RR, Advisory Committee on Heritable Disorders in Newborns and Children. Committee report: Method for evaluating conditions nominated for population-based screening of newborns and children. Genet Med. 2010 Mar; 12(3):153-9.
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56. Brophy CM, Luebke-Wheeler JL, Amiot BP, Remmel RP, Rinaldo P, Nyberg SL. Gene expression and functional analyses of primary rat hepatocytes on nanofiber matrices. Cells Tissues Organs. 2010; 191(2):129-40. Epub 2009 Jun 01.
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57. Downs SM, van Dyck PC, Rinaldo P, McDonald C, Howell RR, Zuckerman A, Downing G. Improving newborn screening laboratory test ordering and result reporting using health information exchange. J Am Med Inform Assoc. 2010 Jan-Feb; 17(1):13-8.
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58. Dietzen DJ, Rinaldo P, Whitley RJ, Rhead WJ, Hannon WH, Garg UC, Lo SF, Bennett MJ. National academy of clinical biochemistry laboratory medicine practice guidelines: follow-up testing for metabolic disease identified by expanded newborn screening using tandem mass spectrometry; executive summary. Clin Chem. 2009 Sep; 55(9):1615-26. Epub 2009 Jul 02.
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59. Brophy CM, Luebke-Wheeler JL, Amiot BP, Khan H, Remmel RP, Rinaldo P, Nyberg SL. Rat hepatocyte spheroids formed by rocked technique maintain differentiated hepatocyte gene expression and function. Hepatology. 2009 Feb; 49 (2):578-86
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60. Bonilla Guerrero R, Wolfe LA, Payne N, Tortorelli S, Matern D, Rinaldo P, Gavrilov D, Melan M, He M, Steinberg SJ, Raymond GV, Vockley J, Gibson KM. Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia. J Inherit Metab Dis. 2008 Dec; 31 Suppl 2:S453-6 Epub 2008 Dec 16
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61. Pedersen CB, Kolvraa S, Kolvraa A, Stenbroen V, Kjeldsen M, Ensenauer R, Tein I, Matern D, Rinaldo P, Vianey-Saban C, Ribes A, Lehnert W, Christensen E, Corydon TJ, Andresen BS, Vang S, Bolund L, Vockley J, Bross P, Gregersen N. The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. Hum Genet. 2008 Aug; 124(1):43-56. Epub 2008 Jun 04.
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62. Turgeon C, Magera MJ, Allard P, Tortorelli S, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P, Matern D. Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots. Clin Chem. 2008 Apr; 54 (4):657-64 Epub 2008 Feb 15
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63. Oglesbee D, Sanders KA, Lacey JM, Magera MJ, Casetta B, Strauss KA, Tortorelli S, Rinaldo P, Matern D. Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD). Clin Chem. 2008 Mar; 54 (3):542-9 Epub 2008 Jan 04
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64. Rinaldo P, Cowan TM, Matern D. Acylcarnitine profile analysis. Genet Med. 2008 Feb; 10(2):151-6.
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65. Rinaldo P, Lim JS, Tortorelli S, Gavrilov D, Matern D. Newborn screening of metabolic disorders: recent progress and future developments. Nestle Nutr Workshop Ser Pediatr Program. 2008; 62:81-93; discussion 93-6.
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66. Green NS, Rinaldo P, Brower A, Boyle C, Dougherty D, Lloyd-Puryear M, Mann MY, Howell RR, Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children. Committee Report: advancing the current recommended panel of conditions for newborn screening. Genet Med. 2007 Nov; 9(11):792-6.
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67. Matern D, Tortorelli S, Oglesbee D, Gavrilov D, Rinaldo P. Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004-2007). J Inherit Metab Dis. 2007 Aug; 30 (4):585-92 Epub 2007 July 23
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68. Schimmenti LA, Crombez EA, Schwahn BC, Heese BA, Wood TC, Schroer RJ, Bentler K, Cederbaum S, Sarafoglou K, McCann M, Rinaldo P, Matern D, di San Filippo CA, Pasquali M, Berry SA, Longo N. Expanded newborn screening identifies maternal primary carnitine deficiency. Mol Genet Metab. 2007 Apr; 90: (4)441-5.
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69. Kroll CA, Ferber MJ, Dawson BD, Jacobson RM, Mensink KA, Lorey F, Sherwin J, Cunningham G, Rinaldo P, Matern D, Hahn SH. Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease. Mol Genet Metab. 2006 Sep-Oct; 89 (1-2):134-8 Epub 2006 Apr 27
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70. Pysher TJ, Bach PR, Geaghan SM, Hamilton MS, Laposata M, Lockitch G, Brugnara C, Coffin CM, Pasquali M, Rinaldo P, Roberts WL, Rutledge JC, Ashwood ER, Blaylock RC, Campos JM, Goldsmith B, Jones PM, Lim M, Meikle AW, Perkins SL, Perry DA, Petti CA, Rogers BB, Steele PE, Weiss RL, Woods G. Teaching pediatric laboratory medicine to pathology residents. Arch Pathol Lab Med. 2006 Jul; 130(7):1031-8.
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71. Magera MJ, Gunawardena ND, Hahn SH, Tortorelli S, Mitchell GA, Goodman SI, Rinaldo P, Matern D. Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I. Mol Genet Metab. 2006 May; 88(1):16-21. Epub 2006 Jan 31.
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72. Tiranti V, Briem E, Lamantea E, Mineri R, Papaleo E, De Gioia L, Forlani F, Rinaldo P, Dickson P, Abu-Libdeh B, Cindro-Heberle L, Owaidha M, Jack RM, Christensen E, Burlina A, Zeviani M. ETHE1 mutations are specific to ethylmalonic encephalopathy. J Med Genet. 2006 Apr; 43(4):340-6. Epub 2005 Sep 23.
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73. Struys EA, Verhoeven NM, Jansen EE, Ten Brink HJ, Gupta M, Burlingame TG, Quang LS, Maher T, Rinaldo P, Snead OC, Goodwin AK, Weerts EM, Brown PR, Murphy TC, Picklo MJ, Jakobs C, Gibson KM. Metabolism of gamma-hydroxybutyrate to d-2-hydroxyglutarate in mammals: further evidence for d-2-hydroxyglutarate transhydrogenase. Metabolism. 2006 Mar; 55(3):353-8.
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74. Watson MS, Mann MY, Lloyd-Puryear MA, Rinaldo P, Howell RR, Cordero J, Edwards ES, Howse JL, Mullaley T, Van Dyck P, Becker W, Boyle C, Cunningham GC, DeBaun MR, Downs SM, Goldman E, Goodman SI, Guerra F, Hannon WH, Hanson J, Larson C, McLean S, Randhawa G, Robertson D, Rothstein M, Steiner RD, Suter S, Therrell B, Tonniges T, Yazzie W, Bailey D, Kaye CI, Kemper AR, Pass K, Puck JM, Desposito F, Hoffman G, Stagni K, Strauss A, Trotter T, Willey AM, Levy HL, Eckman JR, Lorey F, Marsden DL, Miller J, Laraque D, Leight KR, Yawn B, Goldman EB, Dozier B, Fleisher LD. Newborn screening: Toward a uniform screening panel and system - Executive summary. Pediatrics. 2006; 117(5):S296-307.
    
75. Boles RG, Rinaldo P. Glucose concentration in 254 SIDS livers suggests pathophysiological heterogeneity. Ped Dev Pathol. 2006; 9:86-87.
    
76. Rinaldo P, Zafari S, Tortorelli S, Matern D. Making the case for objective performance metrics in newborn screening by tandem mass spectrometry. Ment Retard Dev Disabil Res Rev. 2006; 12(4):255-61.
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77. Kramer KA, Oglesbee D, Hartman SJ, Huey J, Anderson B, Magera MJ, Matern D, Rinaldo P, Robinson BH, Cameron JM, Hahn SH. Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts. Clin Chem. 2005 Nov; 51 (11):2110-6 Epub 2005 Sept 01
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78. Morel CF, Watkins D, Scott P, Rinaldo P, Rosenblatt DS. Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B-12 metabolism and transport. Mol Genet Metab. 2005 Sep-Oct; 86(1-2):160-71.
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79. Tolwani RJ, Hamm DA, Tian L, Sharer JD, Vockley J, Rinaldo P, Matern D, Schoeb TR, Wood PA. Medium-chain acyl-CoA dehydrogenase deficiency in gene-targeted mice. PLoS Genet. 2005 Aug 19; 1(2):e23.
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80. Nyberg SL, Hardin J, Amiot B, Argikar UA, Remmel RP, Rinaldo P. Rapid, large-scale formation of porcine hepatocyte spheroids in a novel spheroid reservoir bioartificial liver. Liver Transpl. 2005 Aug; 11(8):901-10.
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81. Ibdah JA, Perlegas P, Zhao YW, Angdisen J, Borgerink H, Shadoan MK, Wagner JD, Matern D, Rinaldo P, Cline JM. Mice heterozygous for a defect in mitochondrial trifunctional protein develop hepatic steatosis and insulin resistance. Gastroenterology. 2005 May; 128(5):1381-90.
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82. Ensenauer R, Winters JL, Parton PA, Kronn DF, Kim JW, Matern D, Rinaldo P, Hahn SH. Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification. Genet Med. 2005 May-Jun; 7 (5):339-43
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83. Schuler AM, Gower BA, Matern D, Rinaldo P, Vockley J, Wood PA. Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidation. Molecular Genetics & Metabolism. 2005 May; 85(1):7-11.
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84. Shneider BL, Rinaldo P, Emre S, Bucuvalas J, Squires R, Narkewicz M, Gondolesi G, Magid M, Morotti R, Hynan LS. Abnormal concentrations of esterified carnitine in bile: A feature of pediatric acute liver failure with poor prognosis. Hepatology. 2005 Apr; 41(4):717-21.
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85. Tortorelli S, Hahn SH, Cowan TM, Brewster TG, Rinaldo P, Matern D. The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I. Mol Genet Metab. 2005 Feb; 84(2):137-43. Epub 2004 Nov 19.
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86. Ensenauer R, Vockley J, Willard JM, Huey JC, Sass JO, Edland SD, Burton BK, Berry SA, Santer R, Grunert S, Koch HG, Marquardt I, Rinaldo P, Hahn S, Matern D. A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. Am J Hum Genet. 2004 Dec; 75 (6):1136-42 Epub 2004 Oct 14
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87. Schuler AM, Gower BA, Matern D, Rinaldo P, Wood PA. Influence of dietary fatty acid chain-length on metabolic tolerance in mouse models of inherited defects in mitochondrial fatty acid beta-oxidation. Molecular Genetics & Metabolism. 2004 Dec; 83(4):322-9.
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88. Rinaldo P, Tortorelli S, Matern D. Recent developments and new applications of tandem mass spectrometry in newborn screening. Curr Opin Pediatr. 2004 Aug; 16 (4):427-33
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89. Minutti CZ, Lacey JM, Magera MJ, Hahn SH, McCann M, Schulze A, Cheillan D, Dorche C, Chace DH, Lymp JF, Zimmerman D, Rinaldo P, Matern D. Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2004 Aug; 89(8):3687-93.
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90. McKinney JT, Longo N, Hahn SH, Matern D, Rinaldo P, Strauss AW, Dobrowolski SF. Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene. Molecular Genetics & Metabolism. 2004 Jun; 82(2):112-20.
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91. Rinaldo P, Hahn S, Matern D. Clinical biochemical genetics in the twenty-first century. Acta Paediatr Suppl. 2004 May; 93 (445):22-6; discussion 27
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92. Iacobazzi V, Pasquali M, Singh R, Matern D, Rinaldo P, San Filippo CAD, Palmieri F, Longo N. Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation. Am J Med Genet Part A. 2004 Apr 15; 126A(2):150-5.
    
93. Lacey JM, Minutti CZ, Magera MJ, Tauscher AL, Casetta B, McCann M, Lymp J, Hahn SH, Rinaldo P, Matern D. Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry. Clin Chem. 2004 Mar; 50 (3):621-5 Epub 2003 Dec 04
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94. Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, Garcia-Silva MT, Vollmer B, Rinaldo P, Hahn SH, Leonard J, Rahman S, Dionisi-Vici C, Garavaglia B, Gasparini P, Zeviani M. Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. Am J Hum Genet. 2004 Feb; 74(2):239-52.
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95. Grier RE, Gahl WA, Cowan T, Bernardini MS, McDowell GA, Rinaldo P. Determiation of plasma amino acid levels has become a key piece of information. Gent Med. 2004; 6(1):66-68.
    
96. Rinaldo P, Hahn SH, Matern D. Clinical Biochemical Genetics in the 21st Century. Acta Pediatr Scand (suppl). 2004; 445: 1-6.
    
97. Fu X, Rinaldo P, Hahn SH, Kodama H, Packman S. Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes. J Inherit Metab Dis. 2003 Jul; 26(1):55-66.
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98. Matern D, He M, Berry SA, Rinaldo P, Whitley CB, Madsen PP, van Calcar SC, Lussky RC, Andresen BS, Wolff JA, Vockley J. Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry. Pediatrics. 2003 Jul; 112 (1 Pt 1):74-8
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99. Gillingham MB, Connor WE, Matern D, Rinaldo P, Burlingame T, Meeuws K, Harding CO. Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Mol Genet Metab. 2003 Jun; 79(2):114-23.
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100. Magera MJ, Thompson AL, Matern D, Rinaldo P. Liquid chromatography-tandem mass spectrometry method for the determination of vanillylmandelic acid in urine. Clin Chem. 2003 May; 49 (5):825-6
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101. Nagan N, Kruckeberg KE, Tauscher AL, Bailey KS, Rinaldo P, Matern D. The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots. Mol Genet Metab. 2003 Apr; 78 (4):239-46
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102. Matern D, Rinaldo P. Medium chain acyl-coenzyme A dehydrogenase deficiency. In: GeneReviews: Genetic Disease Online Reviews at GeneTests-GeneClinics [database online: Initial posting: April 20, 2000; last update January 27, 2003]. Copyright, University of Washington, Seattle. Available at http://www.geneclinics.org. NULL
     
103. Kroll CA, Magera MJ, Helgeson JK, Matern D, Rinaldo P. Liquid chromatographic-tandem mass spectrometric method for the determination of 5-hydroxyindole-3-acetic acid in urine. Clin Chem. 2002 Nov; 48 (11):2049-51
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104. Buist NRM, Dulac O, Bottiglieri T, Gärtner J, Rinaldo P, Wolf NI. Metabolic evaluation of infantile epilepsy: summary recommendations of the Amalfi Group. Journal of Child Neurology. 2002:3S98-3S12.
     
105. Rinaldo P, Matern D. Fatty acid oxidation disorders. Annu Rev Physiol. 2002; 64:477-502.
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106. Tortorelli S, Matern D, Hahn S, Rinaldo P. La genetica biochimica nel XXI secolo. Prosp Pediatria. 2002;32:315-22.
     
107. Yoon HR, Hahn SH, Ahn YM, Jang SH, Shin YJ, Lee EH, Ryu KH, Eun BL, Rinaldo P, Yamaguchi S. Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy: response to riboflavin. J Inherit Metab Dis. 2001 Dec; 24(8):870-3.
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108. Rinaldo P. Fatty acid transport and mitochondrial oxidation disorders. Semin Liver Dis. 2001 Nov; 21(4):489-500.
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109. Cox KB, Hamm DA, Millington DS, Matern D, Vockley J, Rinaldo P, Pinkert CA, Rhead WJ, Lindsey JR, Wood PA. Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse. Hum Mol Genet. 2001 Sep 15; 10(19):2069-77.
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110. Wood JC, Magera MJ, Rinaldo P, Seashore MR, Strauss AW, Friedman A. Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card. Pediatrics. 2001 Jul; 108(1):Nil_110-Nil_112.
     
111. Ibdah JA, Paul H, Zhao Y, Binford S, Salleng K, Cline M, Matern D, Bennett MJ, Rinaldo P, Strauss AW. Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden death. J Clin Invest. 2001 Jun; 107(11):1403-9.
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112. Collins MT, Chebli C, Jones J, Kushner H, Consugar M, Rinaldo P, Wientroub S, Bianco P, Robey PG. Renal phosphate wasting in fibrous dysplasia of bone is part of a generalized renal tubular dysfunction similar to that seen in tumor-induced osteomalacia. J Bone Miner Res. 2001 May; 16(5):806-13.
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113. Lagerstedt SA, Hinrichs DR, Batt SM, Magera MJ, Rinaldo P, McConnell JP. Quantitative determination of plasma c8-c26 total fatty acids for the biochemical diagnosis of nutritional and metabolic disorders. Molecular Genetics & Metabolism. 2001 May; 73(1):38-45.
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114. Magera MJ, Stoor AL, Helgeson JK, Matern D, Rinaldo P. Determination of homovanillic acid in urine by stable isotope dilution and electrospray tandem mass spectrometry. Clin Chim Acta. 2001 Apr; 306 (1-2):35-41
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115. Bezman L, Moser AB, Raymond GV, Rinaldo P, Watkins PA, Smith KD, Kass NE, Moser HW. Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening. Ann Neurol. 2001 Apr; 49(4):512-7.
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116. Kao PC, Machacek DA, Magera MJ, Lacey JM, Rinaldo P. Diagnosis of adrenal cortical dysfunction by liquid chromatography-tandem mass spectrometry. Ann Clin Lab Sci. 2001 Apr; 31(2):199-204.
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117. Matern D, Schehata BM, Shekhawa P, Strauss AW, Bennett MJ, Rinaldo P. Placental floor infarction complicating the pregnancy of a fetus with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. Mol Genet Metab. 2001 Mar; 72(3):265-8.
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118. Corydon MJ, Vockley J, Rinaldo P, Rhead WJ, Kjeldsen M, Winter V, Riggs C, Babovic-Vuksanovic D, Smeitink J, De Jong J, Levy H, Sewell AC, Roe C, Matern D, Dasouki M, Gregersen N. Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. Pediatr Res. 2001 Jan; 49(1):18-23.
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119. Rinaldo P, Studinski AL, Matern D. Prenatal diagnosis of disorders of fatty acid transport and mitochondrial oxidation. Prenat Diagn. 2001 Jan; 21 (1):52-4
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120. Magera MJ, Helgeson JK, Matern D, Rinaldo P. Methylmalonic acid measured in plasma and urine by stable-isotope dilution and electrospray tandem mass spectrometry. Clin Chem. 2000 Nov; 46 (11):1804-10
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121. Rinaldo P, Matern D. Disorders of fatty acid transport and mitochondrial oxidation: challenges and dilemmas of metabolic evaluation. Genet Med. 2000 Nov-Dec; 2 (6):338-44
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122. Vockley J, Rinaldo P, Bennett MJ, Matern D, Vladutiu GD. Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways. Mol Genet Metab. 2000 Sep-Oct; 71(1-2):10-8.
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123. Yoon HR, Paik MJ, Shin HS, Yu C, Rinaldo P. Analysis of plasma-free fatty acid cyanomethyl derivatives by GC-NPD for the diagnosis of mitochondrial fatty acid oxidation disorders. Chromatographia. 2000 Aug; 52(3-4):211-216.
     
124. Gibson KM, Burlingame TG, Hogema B, Jakobs C, Schutgens RB, Millington D, Roe CR, Roe DS, Sweetman L, Steiner RD, Linck L, Pohowalla P, Sacks M, Kiss D, Rinaldo P, Vockley J. 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism. Pediatr Res. 2000 Jun; 47(6):830-3.
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125. Jones PM, Quinn R, Fennessey PV, Tjoa S, Goodman SI, Fiore S, Burlina AB, Rinaldo P, Boriack RL, Bennett MJ. Improved stable isotope dilution-gas chromatography-mass spectrometry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid beta-oxidation. Clin Chem. 2000 Feb; 46(2):149-55.
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126. Bennett MJ, Rinaldo P, Strauss AW. Inborn errors of mitochondrial fatty acid oxidation. Crit Rev Clin Lab Sci. 2000 Feb; 37(1):1-44.
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127. Fujii K, Matsubara Y, Akanuma J, Takahashi K, Kure S, Suzuki Y, Imaizumi M, Iinuma K, Sakatsume O, Rinaldo P, Narisawa K. Mutation detection by TaqMan-allele specific amplification: application to molecular diagnosis of glycogen storage disease type Ia and medium-chain acyl-CoA dehydrogenase deficiency. Hum Mutat. 2000; 15(2):189-96.
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128. Matsubara Y, Fujii K, Rinaldo P, Narisawa K. A fluorogenic allele-specific amplification method for DNA-based screening for inherited metabolic disorders. Acta Paediatr Suppl. 1999 Dec; 88(432):65-8.
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129. Raymond K, Bale AE, Barnes CA, Rinaldo P. Medium-chain acyl-CoA dehydrogenase deficiency: sudden and unexpected death of a 45 year old woman. Genet Med. 1999 Sep-Oct; 1(6):293-4.
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130. Magera MJ, Lacey JM, Casetta B, Rinaldo P. Method for the determination of total homocysteine in plasma and urine by stable isotope dilution and electrospray tandem mass spectrometry. Clin Chem. 1999 Sep; 45 (9):1517-22
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131. Rinaldo P. Mitochondrial fatty acid oxidation disorders and cyclic vomiting syndrome. Dig Dis Sci. 1999 Aug; 44(8 Suppl):97S-102S.
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132. Ibdah JA, Bennett MJ, Rinaldo P, Zhao Y, Gibson B, Sims HF, Strauss AW. A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women. N Engl J Med. 1999 Jun 3; 340(22):1723-31.
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133. Strauss AW, Bennett MJ, Rinaldo P, Sims HF, O'Brien LK, Zhao Y, Gibson B, Ibdah J. Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complications. Semin Perinatol. 1999 Apr; 23(2):100-12.
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134. Rinaldo P, Yoon HR, Yu C, Raymond K, Tiozzo C, Raymond K, Giordano G. Sudden and unexpected neonatal death: a protocol for the postmortem diagnosis of fatty acid oxidation disorders. Semin Perinatol. 1999 Apr; 23 (2):204-10
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135. Mathur A, Sims HF, Gopalakrishnan D, Gibson B, Rinaldo P, Vockley J, Hug G, Strauss AW. Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. Circulation. 1999 Mar 16; 99(10):1337-43.
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136. Hostetler MA, Arnold GL, Mooney R, Bennett MJ, Rinaldo P, Roe CR.. Hypoketotic hypoglycemic coma in a 21 month old. Ann Emerg Med. 1999; 34:394-8.
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137. Hahn SH, Lee EH, Jung JW, Hong CH, Yoon HR, Rinaldo P, Sims H, Gibson B, Strauss AW.. Very long chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency in a 5 month old Korean boy: identification of a novel mutation. J Pediatr. 1999; 135:250-3.
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138. Kurtz DM, Rinaldo P, Rhead WJ, Tian L, Millington DS, Vockley J, Hamm DA, Brix AE, Lindsey JR, Pinkert CA, O'Brien WE, Wood PA. Targeted disruption of mouse long-chain acyl-CoA dehydrogenase gene reveals crucial roles for fatty acid oxidation. Proc Natl Acad Sci U S A. 1998 Dec 22; 95(26):15592-7.
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139. Odaib AA, Shneider BL, Bennett MJ, Pober BR, Reyes-Mugica M, Friedman AL, Suchy FJ, Rinaldo P. A defect in the transport of long-chain fatty acids associated with acute liver failure. N Engl J Med. 1998 Dec 10; 339(24):1752-7.
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140. Rinaldo P, Raymond K, al-Odaib A, Raymond K, Bennett MJ. Clinical and biochemical features of fatty acid oxidation disorders. Curr Opin Pediatr. 1998 Dec; 10 (6):615-21
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141. Boles RG, Buck EA, Blitzer MG, Platt MS, Cowan TM, Martin SK, Yoon H, Madsen JA, Reyes-Mugica M, Rinaldo P. Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life. J Pediatr. 1998 Jun; 132(6):924-33.
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142. Gregersen N, Winter VS, Corydon MJ, Corydon TJ, Rinaldo P, Ribes A, Martinez G, Bennett MJ, Vianey-Saban C, Bhala A, Hale DE, Lehnert W, Kmoch S, Roig M, Riudor E, Eiberg H, Andresen BS, Bross P, Bolund LA, Kolvraa S. Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-- >T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria. Hum Mol Genet. 1998 Apr; 7(4):619-27.
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143. Bussieres JF, Mitchell G, Larochelle J, Scriver C, Treacy E, Fenyves D, Alvarez F, Dallaire L, Dubois J, Dupius C, Faucher F, Lambert M, Melancon S, Paradis K, Phan V, Rasquin A, Grenier A, Laframboise R, Raymond K, Rinaldo P, Holme E, Lindstedt S.. Le NTBC. Quebec Pharmacie. 1998; 45:361-7.
     
144. Rinaldo P, Raymond K, Al Odaib A, Bennett MJ. Fatty acid oxidation disorders: Clinical and biochemical features. Curr Opin Pediatr. 1998; 10:615-621.
     
145. Shneider BL, Thevananther S, Moyer MS, Walters HC, Rinaldo P, Devarajan P, Sun AQ, Dawson PA, Ananthanarayanan M. Cloning and characterization of a novel peptidase from rat and human ileum. J Biol Chem. 1997 Dec 5; 272(49):31006-15.
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146. Kamijo T, Indo Y, Souri M, Aoyama T, Hara T, Yamamoto S, Ushikubo S, Rinaldo P, Matsuda I, Komiyama A, Hashimoto T. Medium chain 3-ketoacyl-coenzyme A thiolase deficiency: a new disorder of mitochondrial fatty acid beta-oxidation. Pediatr Res. 1997 Nov; 42(5):569-76.
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147. Rinaldo P, Stanley CA, Hsu BY, Sanchez LA, Stern HJ. Sudden neonatal death in carnitine transporter deficiency. J Pediatr. 1997 Aug; 131(2):304-5.
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148. Chew A, Buck EA, Peretz S, Sirugo G, Rinaldo P, Isaya G. Cloning, expression, and chromosomal assignment of the human mitochondrial intermediate peptidase gene (MIPEP). Genomics. 1997 Mar 15; 40(3):493-6.
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149. Evans MI, Duquette DA, Rinaldo P, Bawle E, Rosenblatt DS, Whitty J, Quintero RA, Johnson MP. Modulation of B12 dosage and response in fetal treatment of methylmalonic aciduria (MMA): titration of treatment dose to serum and urine MMA. Fetal Diagnosis & Therapy. 1997 Jan-Feb; 12(1):21-3.
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150. Treem WR, Shoup ME, Hale DE, Bennett MJ, Rinaldo P, Millington DS, Stanley CA, Riely CA, Hyams JS. Acute fatty liver of pregnancy, hemolysis, elevated liver enzymes, and low platelets syndrome, and long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. Am J Gastroenterol. 1996 Nov; 91(11):2293-300.
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151. Fries MH, Rinaldo P, Schmidt-Sommerfeld E, Jurecki E, Packman S. Isovaleric acidemia: response to a leucine load after three weeks of supplementation with glycine, L-carnitine, and combined glycine-carnitine therapy. J Pediatr. 1996 Sep; 129(3):449-52.
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152. Corydon MJ, Gregersen N, Lehnert W, Ribes A, Rinaldo P, Kmoch S, Christensen E, Kristensen TJ, Andresen BS, Bross P, Winter V, Martinez G, Neve S, Jensen TG, Bolund L, Kolvraa S. Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase. Pediatr Res. 1996 Jun; 39(6):1059-66.
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153. Ushikubo S, Aoyama T, Kamijo T, Wanders RJ, Rinaldo P, Vockley J, Hashimoto T. Molecular characterization of mitochondrial trifunctional protein deficiency: formation of the enzyme complex is important for stabilization of both alpha- and beta-subunits. Am J Hum Genet. 1996 May; 58(5):979-88.
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154. Yang D, Previs SF, Fernandez CA, Dugelay S, Soloviev MV, Hazey JW, Agarwal KC, Levine WC, David F, Rinaldo P, Beylot M, Brunengraber H. Noninvasive probing of citric acid cycle intermediates in primate liver with phenylacetylglutamine. Am J Physiol. 1996 May; 270(5 Pt 1):E882-9.
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155. Bennett MJ, Weinberger MJ, Kobori JA, Rinaldo P, Burlina AB. Mitochondrial short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: a new defect of fatty acid oxidation. Pediatr Res. 1996 Jan; 39(1):185-8.
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156. Rashed MS, Ozand PT, Bennett MJ, Barnard JJ, Govindaraju DR, Rinaldo P. Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postmortem bile. Clin Chem. 1995 Aug; 41(8 Pt 1):1109-14.
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157. Bhala A, Willi SM, Rinaldo P, Bennett MJ, Schmidt-Sommerfeld E, Hale DE. Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency. J Pediatr. 1995 Jun; 126(6):910-5.
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158. Brackett JC, Sims HF, Rinaldo P, Shapiro S, Powell CK, Bennett MJ, Strauss AW. Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency. J Clin Invest. 1995 May; 95(5):2076-82.
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159. Weinberger MJ, Rinaldo P, Strauss AW, Bennett MJ. Intact alpha-subunit is required for membrane-binding of human mitochondrial trifunctional beta-oxidation protein, but is not necessary for conferring 3-ketoacyl-CoA thiolase activity to the beta-subunit. Biochem Biophys Res Commun. 1995 Apr 6; 209(1):47-52.
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160. Brackett JC, Sims HF, Steiner RD, Nunge M, Zimmerman EM, deMartinville B, Rinaldo P, Slaugh R, Strauss AW. A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death. J Clin Invest. 1994 Oct; 94(4):1477-83.
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161. Boles RG, Martin SK, Blitzer MG, Rinaldo P. Biochemical diagnosis of fatty acid oxidation disorders by metabolite analysis of postmortem liver. Hum Pathol. 1994 Aug; 25(8):735-41.
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162. Treem WR, Rinaldo P, Hale DE, Stanley CA, Millington DS, Hyams JS, Jackson S, Turnbull DM. Acute fatty liver of pregnancy and long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. Hepatology. 1994 Feb; 19(2):339-45.
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163. Burlina AB, Dionisi-Vici C, Bennett MJ, Gibson KM, Servidei S, Bertini E, Hale DE, Schmidt-Sommerfeld E, Sabetta G, Zacchello F, Rinaldo P. A New Encephalopathy with Ethylmalonic Aciduria and Normal Fatty Acid Oxidation in Fibroblasts. J Pediatr. 1994; 124:79-86.
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164. Sewell AC, Herwig J, Bohles H, Rinaldo P, Bhala A, Hale DE. A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria. Eur J Pediatr. 1993 Nov; 152(11):922-4.
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165. Boles RG, Ment LR, Meyn MS, Horwich AL, Kratz LE, Rinaldo P. Short-term response to dietary therapy in molybdenum cofactor deficiency. Ann Neurol. 1993 Nov; 34(5):742-4.
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166. Kossak BD, Schmidt-Sommerfeld E, Schoeller DA, Rinaldo P, Penn D, Tonsgard JH. Impaired fatty acid oxidation in children on valproic acid and the effect of L-carnitine. Neurology. 1993 Nov; 43(11):2362-8.
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167. Seashore MR, Rinaldo P. Metabolic disease of the neonate and young infant. Semin Perinatol. 1993 Oct; 17(5):318-29.
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168. Rinaldo P, Schmidt-Sommerfeld E, Posca AP, Heales SJ, Woolf DA, Leonard JV. Effect of treatment with glycine and L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency. J Pediatr. 1993 Apr; 122(4):580-4.
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169. Bennett MJ, Gibson KM, Sherwood WG, Divry P, Rolland MO, Elpeleg ON, Rinaldo P, Jakobs C. Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): comparison of enzymatic and metabolite analysis. J Inherit Metab Dis. 1993; 16(5):831-6.
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170. Schmidt-Sommerfeld E, Penn D, Rinaldo P, Kossak D, Li BU, Huang ZH, Gage DA. Urinary medium-chain acylcarnitines in medium-chain acyl-CoA dehydrogenase deficiency, medium-chain triglyceride feeding and valproic acid therapy: sensitivity and specificity of the radioisotopic exchange/high performance liquid chromatography method. Pediatr Res. 1992 Jun; 31(6):545-51.
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171. Woolf AD, Wynshaw-Boris A, Rinaldo P, Levy HL. Intentional infantile ethylene glycol poisoning presenting as an inherited metabolic disorder. J Pediatr. 1992 Mar; 120(3):421-4.
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172. Kelly DP, Whelan AJ, Hale DE, Rinaldo P, Rutledge SL, Zhang Z, Strauss AW. Molecular characterization of medium-chain acyl-CoA dehydrogenase deficiency causing sudden death. Progress in Clinical & Biological Research. 1992; 375:463-72.
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173. Yokota I, Coates PM, Hale DE, Rinaldo P, Tanaka K. The molecular basis of medium chain acyl-CoA dehydrogenase deficiency: survey and evolution of 985A----G transition, and identification of five rare types of mutation within the medium chain acyl-CoA dehydrogenase gene. Progress in Clinical & Biological Research. 1992; 375:425-40.
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174. Schmidt-Sommerfeld E, Penn D, Duran M, Rinaldo P, Bennett MJ, Santer R, Stanley CA. Detection and quantitation of acylcarnitines in plasma and blood spots from patients with inborn errors of fatty acid oxidation. Progress in Clinical & Biological Research. 1992; 375:355-62.
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175. Yokota I, Coates PM, Hale DE, Rinaldo P, Tanaka K. Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency. Am J Hum Genet. 1991 Dec; 49(6):1280-91.
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176. Bennett MJ, Rinaldo P, Millington DS, Tanaka K, Yokota I, Coates PM. Medium-chain acyl-CoA dehydrogenase deficiency: postmortem diagnosis in a case of sudden infant death and neonatal diagnosis of an affected sibling. Pediatr Pathol. 1991 Nov-Dec; 11(6):889-95.
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177. Yamaguchi S, Shimizu N, Orii T, Fukao T, Suzuki Y, Maeda K, Hashimoto T, Previs SF, Rinaldo P. Prenatal diagnosis and neonatal monitoring of a fetus with glutaric aciduria type II due to electron transfer flavoprotein (beta-subunit) deficiency. Pediatr Res. 1991 Nov; 30(5):439-43.
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178. Rinaldo P, Welch RD, Previs SF, Schmidt-Sommerfeld E, Gargus JJ, O'Shea JJ, Zinn AB. Ethylmalonic/adipic aciduria: effects of oral medium-chain triglycerides, carnitine, and glycine on urinary excretion of organic acids, acylcarnitines, and acylglycines. Pediatr Res. 1991 Sep; 30(3):216-21.
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179. Shimizu N, Yamaguchi S, Orii T, Previs SF, Rinaldo P. Mass spectrometric analysis of metabolite excretion in five Japanese patients with the late-onset form of glutaric aciduria type II. Biol Mass Spectrom. 1991 Aug; 20(8):479-83.
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180. Giordano G, McMurray WJ, Previs SF, Welch RD, Rinaldo P. Identification of 2-(2'-octenyl) succinic acid in urine. Rapid Commun Mass Spectrom. 1990 May; 4(5):170-2.
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181. Rinaldo P, O'Shea JJ, Welch RD, Tanaka K. The enzymatic basis for the dehydrogenation of 3-phenylpropionic acid: in vitro reaction of 3-phenylpropionyl-CoA with various acyl-CoA dehydrogenases. Pediatr Res. 1990 May; 27(5):501-7.
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182. Bennett MJ, Coates PM, Hale DE, Millington DS, Pollitt RJ, Rinaldo P, Roe CR, Tanaka K. Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 1990; 13(5):707-15.
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183. Rinaldo P, O'Shea JJ, Welch RD, Tanaka K. Diagnosis of medium chain acyl-CoA dehydrogenase deficiency by stable isotope dilution analysis of urinary acylglycines: retrospective and prospective studies, and comparison of its accuracy to acylcarnitine identification by FAB/mass spectrometry. Progress in Clinical & Biological Research. 1990; 321:411-8.
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184. Rinaldo P, O'Shea JJ, Welch RD, Tanaka K. Stable isotope dilution analysis of n-hexanoylglycine, 3-phenylpropionylglycine and suberylglycine in human urine using chemical ionization gas chromatography/mass spectrometry selected ion monitoring. Biomed Environ Mass Spectrom. 1989 Jul; 18(7):471-7.
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185. Rinaldo P, O'Shea JJ, Goodman SI, Miller LV, Fennessey PV, Whelan DT, Hill RE, Tanaka K. Comparison of urinary acylglycines and acylcarnitines as diagnostic markers of medium-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis. 1989; 12(Suppl 2):325-8.
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186. Daolio S, Bonsembiante M, Bittante G, Ramanzin M, Rinaldo P. Ruminal organic acid analysis by gas chromatography/mass spectrometry. J Agric Food Chem. 1989; 37:970-974.
     
187. Rinaldo P, O'Shea JJ, Coates PM, Hale DE, Stanley CA, Tanaka K. Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3- phenylpropionylglycine. N Engl J Med. 1988 Nov 17; 319(20):1308-13.
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188. Rubaltelli FF, Orzali A, Rinaldo P, Donzelli F, Carnielli V. Carnitine and the premature. Biol Neonate. 1987; 52(Suppl 1):65-77.
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189. Rinaldo P, Zacchello G, Chiandetti L, Zacchello F. Follow-up of seven cases affected with methylmalonic acidosis. [Italian]. Riv Ital Pediatr. 1987; 13:66-73.
     
190. Rinaldo P, Barachino A, Poletto M, Alba C, Chiandetti L, Zacchello F. Acute metabolic decompensation in methylmalonic acidosis: time sequence in the urinary excretion pattern of precursor organic acids and their major metabolites. Perspect Inherited Metab Dis. 1987; 7:57-70.
     
191. Daolio S, Andrighetto I, Rinaldo P. A preliminary study of the use of gas chromatography/mass spectrometry for silage organic acid analysis. [Italian]. Zoot Nutr Anim. 1987; 13:415-424.
     
192. Angelini C, Bresolin N, Pegolo G, Bet L, Rinaldo P, Trevisan C, Vergani L. Childhood encephalomyopathy with cytochrome c oxidase deficiency, ataxia, muscle wasting, and mental impairment. Neurology. 1986 Aug; 36(8):1048-52.
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193. Di Donato S, Frerman FE, Rimoldi M, Rinaldo P, Taroni F, Wiesmann UN. Systemic carnitine deficiency due to lack of electron transfer flavoprotein:ubiquinone oxidoreductase. Neurology. 1986 Jul; 36(7):957-63.
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194. Rinaldo P, Miolo G, Chiandetti L, Zacchello F, Daolio S, Traldi P. Hydroxyl negative chemical ionization mass spectrometry linked with collisionally activated decomposition. A modern analytical tool in inborn errors of metabolism. Biomed Mass Spectrom. 1985 Sep; 12(9):570-6.
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195. Rinaldo P, Marcon M, Dussini N, Chiandeti L, Zacchello F, Fois A, Angelini A, Vazzoler G, Parini R. Urinary organic acids in inherited disorders of mitochondrial metabolism: presumptive differential diagnosis of lactic acidoses by gas chromatography/mass spectrometry. Perspect Inherited Metab Dis. 1985; 6:53-63.
     
196. Rinaldo P, Chiandetti L, Zacchello F, Daolio S, Traldi P. CAD MIKES: a new method for a rapid and unequivocal structural identification of organic acids in biological fluids. A first application to a case of methylmalonic aciduria. Biomed Mass Spectrom. 1984 Dec; 11(12):643-6.
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