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Adult‐onset Krabbe disease due to a homozygous GALC mutation without abnormal signals on an MRI in a consanguineous family: A case report
BACKGROUND: The most frequent and common form of Krabbe disease (KD) is early‐onset KD in infants, and late‐onset KD has been reported to be a rare disease. In the present study, we reported an adult‐onset KD patient in a consanguineous Chinese family. METHODS: Clinical and radiological data were co...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507702/ https://www.ncbi.nlm.nih.gov/pubmed/32677356 http://dx.doi.org/10.1002/mgg3.1407 |