Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation

BACKGROUND: Fabry disease (FD) results from X-linked inheritance of a mutation in the GLA gene, encoding for alpha galactosidase A, and is characterized by heterogeneous clinical manifestations. Two phenotypes have been described “Classic” and “late onset” which cannot be predicted exclusively by ge...

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Publicat a:PLoS One
Autors principals: Lavalle, L., Thomas, A. S., Beaton, B., Ebrahim, H., Reed, M., Ramaswami, U., Elliott, P., Mehta, A. B., Hughes, D. A.
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2018
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5886405/
https://ncbi.nlm.nih.gov/pubmed/29621274
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0193550
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