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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Detalles Bibliográficos
Autores principales: Zerkaoui, M., Ratbi, I., Castellotti, B., Gellera, C., Lyahyai, J., Kriouile, Y., Sefiani, A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4644339/
https://www.ncbi.nlm.nih.gov/pubmed/26567009
http://dx.doi.org/10.1186/s12887-015-0490-9

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