Niemann-Pick disease type C. From bench to bedside.
Schiffmann
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Developmental and Metabolic Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Md., USA.
D000328:Adult; D017668:Age of Onset; D002784:Cholesterol / Q000378:metabolism; D018450:Disease Progression; D004951:Esterification; D005260:Female; D005347:Fibroblasts / Q000473:pathology; D005487:Foam Cells / Q000473:pathology; D005817:Genetic Counseling; D006644:Histiocytes / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D007361:Intelligence Tests; D007567:Jaundice, Neonatal / Q000209:etiology; D008297:Male; D009422:Nervous System Diseases / Q000209:etiology; D009542:Niemann-Pick Diseases / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000503:physiopathology / Q000628:therapy; D013163:Splenomegaly / Q000209:etiology
D002784:Cholesterol