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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 approximately...

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Detalles Bibliográficos
Publicado en:Proc Natl Acad Sci U S A
Principais autores: Wenger, David A., Sattler, Martha, Hiatt, William
Formato: Artigo
Idioma:Inglês
Publicado: National Academy of Sciences 1974
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Acceso en liña:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC388113/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/4522795/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.71.3.854
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