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Showing articles 0 to 6 of 6 Filter Applied: cultured skin fibroblasts (Click to remove) Niemann-Pick Disease Type C from Bench to Bedside JAMA 276:561-564, Schiffmann,R., 1996 An 83-Year-Old Female Patient with a Pupil Involving Oculomotor Nerve Palsy Neurol 105:e214383, Riegel,D.C.,et al, 2025 Heterogeneity of Coenzyme Q10 Deficiency Arch Neurol 69:978-983, Emmanuele, V.,et al, 2012 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 Acute Profound Dystonia in Infants with Glutaric Acidemia Pediatrics 83:228-234, Bergman,I.,et al, 1989 Showing articles 0 to 6 of 6