Llwytho...
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...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | BMC Neurol |
|---|---|
| Prif Awduron: | , , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
BioMed Central
2019
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6560759/ https://ncbi.nlm.nih.gov/pubmed/31185936 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12883-019-1345-z |
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