Compound heterozygous pathogenic variants in the GALC gene cause infant-onset Krabbe disease

BACKGROUND: Krabbe disease, also called globoid cell leukodystrophy, is an autosomal recessive disease caused by a deficiency of lysosomal galactocerebrosidase. Infantile Krabbe occurring before 12 months of age accounts for most cases. Typical clinical features include irritability, seizures, perip...

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Detalles Bibliográficos
Autores principales: Zhang, Xiaoli, Niu, Guohui, Song, Panpan, Wang, Lijun, Han, Rui, Chu, Manman, Guo, Qiliang, Xu, Zhao, Yan, Lihong, Jia, Tianming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8578788/
https://www.ncbi.nlm.nih.gov/pubmed/34765479
http://dx.doi.org/10.21037/tp-21-403

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