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European Journal of Human Genetics, ISSN 1018-4813, 06/2019
Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in PGM3 in diagnostic, predictive and... 
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 03/2019
There is an ongoing debate on whether and how fructose is involved in the pathogenesis of nonalcoholic fatty liver disease (NAFLD). A recent experimental study... 
Journal Article
Neurology, ISSN 0028-3878, 2015, Volume 84, Issue 21, pp. 2177 - 2182
OBJECTIVE: To identify the underlying genetic defect in 5 patients from a consanguineous family with a Walker-Warburg phenotype, together with intracranial... 
ALPHA-DYSTROGLYCAN | CELLS | DISEASE | MUSCULAR-DYSTROPHIES | MUSCLE | MUTATIONS | CLINICAL NEUROLOGY | Dystroglycans - deficiency | Frameshift Mutation | Humans | Arabs - genetics | Dystroglycans - genetics | Female | Infant | Consanguinity | Walker-Warburg Syndrome - genetics | Israel | Infant, Newborn | Walker-Warburg Syndrome - pathology | Index Medicus | Abridged Index Medicus
Journal Article
Clinical Chemistry, ISSN 0009-9147, 08/2019, p. clinchem.2019.305391
BACKGROUNDMany muscular dystrophies currently remain untreatable. Recently, dietary ribitol has been suggested as a treatment for cytidine diphosphate... 
Index Medicus
Journal Article
Journal Article
Journal of inherited metabolic disease, ISSN 0141-8955, 03/2019
The congenital disorders of glycosylation (CDG) are inborn errors of metabolism with a great genetic heterogeneity. Most CDG are caused by defects in the... 
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2014, Volume 164, Issue 6, pp. 1618 - 1618
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 04/2015, Volume 24, Issue 8, pp. 2241 - 2246
Journal Article
Pediatrics, ISSN 0031-4005, 07/2014, Volume 134, Issue 1, pp. E279 - E283
Hepatopathy is the most common feature in the Congenital Disorders of Glycosylation (CDG). More than 70 subtypes have been identified in this growing group of... 
Journal Article
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