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Novel GALC Mutations Cause Adult-Onset Krabbe Disease With Myelopathy in Two Chinese Families: Case Reports and Literature Review
Krabbe disease (KD), also referred to as globoid cell leukodystrophy, is a rare autosomal recessive lysosomal storage disorder caused by β-galactocerebrosidase (GALC) deficiency. Most patients affected by this disease are infants, and <10% of cases suffer from adult-onset KD. In this study, two C...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7473299/ https://www.ncbi.nlm.nih.gov/pubmed/32973651 http://dx.doi.org/10.3389/fneur.2020.00830 |