Multiple Sulfatase Deficiency: Clinical, Neuropathological, Ultrastructural and Biochemical Studies

We describe the clinical, pathological, ultrastructural and biochemical features in the case of a 1 S-year-old boy with multiple sulfatase deficiency. Clinical abnormalities included hypotonia, retarded psychomotor development, hepatosplenomegaly, pigmentary degeneration of the retina, myoclonic sei...

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Veröffentlicht in:	Journal of neuropathology and experimental neurology 1990-07, Vol.49 (4), p.406-423
Hauptverfasser:	Guerra, Wayne F, Verity, M Anthony, Philippart, Michel, Fluharty, Arvan L, Nguyen, Hao T
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Atrophy Biological and medical sciences Brain - metabolism Brain - pathology Brain - ultrastructure Cerebellum - pathology Conjunctiva - ultrastructure Errors of metabolism Humans Kidney - ultrastructure Lipids (lysosomal enzyme disorders, storage diseases) Male Medical sciences Metabolic diseases Myelin Sheath - pathology Staining and Labeling Sulfatases - deficiency Sulfatases - metabolism
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