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GALC mutations in Chinese patients with late-onset Krabbe disease: a case report

BACKGROUND: Krabbe disease (also known as globoid cell leukodystrophy) cause by a deficiency of the enzyme β-galactocerebrosidase (galactosylceramidase, GALC). The deficiency of GALC leads to accumulation of galactosylceramide and psychosine, the latter GALC substrate having a potential role in trig...

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Detalles Bibliográficos
Autores principales: Zhuang, Shunzhi, Kong, Lingen, Li, Caiming, Chen, Likun, Zhang, Tingting
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6560759/
https://www.ncbi.nlm.nih.gov/pubmed/31185936
http://dx.doi.org/10.1186/s12883-019-1345-z