A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD).

Wrobe, D

A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD). [electronic resource] - Journal of inherited metabolic disease Feb 2000 - 63-76 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

0141-8955

10.1023/a:1005603014401 doi


Child, Preschool
Female
Fibroblasts--metabolism
Glycoproteins--deficiency
Glycosylation
Humans
Leukodystrophy, Metachromatic--genetics
Mutation
Saposins
Sphingolipid Activator Proteins
Sulfoglycosphingolipids--metabolism