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The objectives of this protocol are to develop and validate clinical assays for inborn errors of metabolism (IEMs) using specimens collected from consenting individuals who have a confirmed diagnosis of an IEM or are a first degree relative of an individual with an IEM and to improve the diagnosis of IEMs by establishing and/or refining disease ranges for each analyte measured and to improve the care of these patients by reducing the number of false positive results and unnecessary follow-up.
The purpose of this study is to determine if psychosine (PSY) is an indicator of Krabbe disease status and predictor of disease progression.
The purpose of this study is to validate and evaluate several diagnostic tests in whole blood dried on filter paper (dried blood spots, DBS), the typical specimen used for newborn screening. Test validation requires the analysis of samples of affected patients and healthy controls, both children and adults.
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