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Genotype and phenotype classification of 29 patients affected by Krabbe disease
Krabbe disease is a rare neurodegenerative lysosomal storage disorder caused by mutations in the galactocerebrosidase gene, GALC. Krabbe disease usually affects infants, but has also been reported in older children and adults. Different phenotypes are described based on age at onset. The gene encodi...
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| Publicado no: | JIMD Rep |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley & Sons, Inc.
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6498822/ https://ncbi.nlm.nih.gov/pubmed/31240153 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12007 |
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