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Progress in the understanding and treatment of Fabry disease

BACKGROUND: Fabry disease is caused by α-galactosidase A deficiency. Substrates of this lysosomal enzyme accumulate, resulting in cellular dysfunction. Patients experience neuropathic pain, kidney failure, heart disease, and strokes. SCOPE OF REVIEW: The clinical picture and molecular features of Fa...

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Detalles Bibliográficos
Publicado en:Biochim Biophys Acta Gen Subj
Main Authors: Miller, James J., Kanack, Adam J., Dahms, Nancy M.
Formato: Artigo
Idioma:Inglês
Publicado: 2019
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6981246/
https://ncbi.nlm.nih.gov/pubmed/31526868
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbagen.2019.129437
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