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Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report
BACKGROUND: Krabbe disease (KD) or globoid cell leukodystrophy is an autosomal recessive lysosomal disorder, which affects metabolic and neurologic systems. This pathology has different forms. Infantile onset is about 85 % to 90 % of individuals with Krabbe disease. Disorder’s onset is characterized...
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| Publicat a: | BMC Pediatr |
|---|---|
| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BioMed Central
2015
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4644339/ https://ncbi.nlm.nih.gov/pubmed/26567009 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-015-0490-9 |
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