[Familial sulfatidosis associated with systemic ponto-cerebellar atrophy: clinical, biochemical, genetic and anatomo-pathological study].
D000328:Adult; D000368:Aged; D001284:Atrophy; D002531:Cerebellum / Q000473:pathology*; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011149:Pons / Q000378:metabolism / Q000473:pathology*; D013429:Sulfatases / Q000378:metabolism
D013429:Sulfatases
Sulfatidosi familiare associata ad atrofia sistemica pontocerebellare: studio clinico, biochimico, genetico ed anatomopatologico