Unusual biochemical presentation of GM1 gangliosidosis: markedly elevated levels of multiple plasma lysosomal enzyme activities.
Prence
E M
EM
Division of Medical Genetics, Shriver Center for Mental Retardation, Waltham, MA 02554.
Natowicz
M R
MR
D002478:Cells, Cultured; D005347:Fibroblasts; D016537:Gangliosidosis, GM1 / Q000097:blood*; D006801:Humans; D007223:Infant; D008247:Lysosomes / Q000201:enzymology* / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron; D001616:beta-Galactosidase / Q000378:metabolism
D001616:beta-Galactosidase