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Globoid Cell Leukodystrophy: Deficiency of Lactosyl Ceramide Beta-Galactosidase

Activity of lactosyl ceramide β-galactosidase (β-D-galactoside galactohydrolase, EC 3.2.1.23) was found to be extremely low in enzyme preparations from liver, brain, and cultured skin fibroblasts from patients with Krabbe's disease. Leukocytes from one set of parents had enzyme levels approxima...

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Détails bibliographiques
Auteurs principaux: Wenger, David A., Sattler, Martha, Hiatt, William
Format: Artigo
Langue:Inglês
Publié: 1974
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC388113/
https://ncbi.nlm.nih.gov/pubmed/4522795
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