Adult-onset Krabbe disease in two generations of a Chinese family

BACKGROUND: Krabbe disease (KD) is a rare autosomal recessive lysosomal storage disorder caused by deficiency of the galactocerebrosidase (GALC) enzyme. The adult-onset KD is infrequent, and often presenting with slowly progressive spastic paraplegia. Herein, we describe a two-generation concomitant...

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Detalles Bibliográficos
Publicado en:Ann Transl Med
Main Authors: Zhang, Tongxia, Yan, Chuanzhu, Ji, Kunqian, Lin, Pengfei, Chi, Lingyi, Zhao, Xiuhe, Zhao, Yuying
Formato: Artigo
Idioma:Inglês
Publicado: AME Publishing Company 2018
Assuntos:
Original Article on Translational Neurodegeneration
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5994525/
https://ncbi.nlm.nih.gov/pubmed/29951496
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2018.04.30
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