Fabry disease: clinical and genotypic aspects of three cases in first degree relatives

Fabry disease is an X-linked, lysosomal storage disease caused by the inherited deficiency of the enzyme α-galactosidase A. The diagnosis is usually late, with renal, cardiovascular and/or cerebral complications that reduce life expectancy. Angiokeratomas are asymptomatic lesions present as the init...

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Detalles Bibliográficos
Autores principales: da Silva, Letícia Bueno Nunes, Badiz, Thais Cardoso de Mello Tucunduva, Enokihara, Milvia Maria Simões e Silva, Porro, Adriana Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Dermatologia 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3938365/
https://www.ncbi.nlm.nih.gov/pubmed/24626659
http://dx.doi.org/10.1590/abd1806-4841.20142785

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3938365/
https://www.ncbi.nlm.nih.gov/pubmed/24626659
http://dx.doi.org/10.1590/abd1806-4841.20142785

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