Cerebroside sulfatase activator deficiency induced metachromatic leukodystrophy.

Two siblings of consanguineous parents had presented with a variety of findings indicative of juvenile metachromatic leukodystrophy (MLD). However, instead of the expected profound deficiency of arylsulfatase A (ARS A), their enzyme levels were about half-normal, and enzyme from fibroblasts had prop...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
Main Authors: Stevens, R L, Fluharty, A L, Kihara, H, Kaback, M M, Shapiro, L J, Marsh, B, Sandhoff, K, Fischer, G
פורמט: Artigo
שפה:Inglês
יצא לאור: 1981
נושאים:
Research Article
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC1685162/
https://ncbi.nlm.nih.gov/pubmed/6119902
תגים: הוספת תג
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