Previously Unidentified Gene Variation Associated with Fabry Disease: The Impact on One Family

Fabry disease is an X-linked lysosomal storage genetic disorder associated with over 1000 mutations in the alpha-galactosidase-A gene region. We report here a 69-year-old male who underwent a kidney biopsy to evaluate progressive renal failure. He was found to have zebra bodies in visceral epithelia...

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Detalles Bibliográficos
Autores principales: Vanga, Amaresh R., Schrier Vergano, Samantha A., Kowalewska, Jolanta, McCune, Thomas R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7520668/
https://www.ncbi.nlm.nih.gov/pubmed/33014486
http://dx.doi.org/10.1155/2020/8899703

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7520668/
https://www.ncbi.nlm.nih.gov/pubmed/33014486
http://dx.doi.org/10.1155/2020/8899703

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