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Showing articles 0 to 10 of 10 Filter Applied: cultured skin fibroblasts (Click to remove) Glycogen-Storage Disease Type II eMedicine, May 2, Ibrahim,J. &McGovern,M., 2006 Heterogeneity of Coenzyme Q10 Deficiency Arch Neurol 69:978-983, Emmanuele, V.,et al, 2012 Niemann-Pick Disease Type C: Two Cases and an Update Movement Disorders 15:1199-1203, Uc,E.Y.,et al, 2000 Clinical Approach to Inherited Peroxisomal Disorders: A Series of 27 Patients Ann Neurol 44:720-730,713, Baumgartner,M.R.,et al, 1998 Niemann-Pick Disease Type C from Bench to Bedside JAMA 276:561-564, Schiffmann,R., 1996 Insights Into the Diagnosis and Treatment of Lysosomal Storage Diseases Arch Neurol 60:322-328, Wegner,D.A.,et al, 2003 X Linked Adrenoleukodystrophy:Clinical Presentation, Diagnosis, and Therapy JNNP 63:4-14, vanGeel,B.M.,et al, 1997 Canavan Disease:From Spongy Degeneration to Molecular Analysis J Pediatr 127:511-517, Matalon,R.,et al, 1995 Chronic Cardiomyopathy and WEakness or Acute Coma in Children with a Defect in Carnitine Uptake Ann Neurol 30:709-716, Stanley,C.A.,et al, 1991 Infantile CNS Spongy Degeneration-14 Cases:Clinical Update Neurol 40:1876-1882, Gascon,G.G.,et al, 1990 Showing articles 0 to 10 of 10