Demographic and Clinical Characteristics of the Full 2015-2018 Cohort of Romanian Fabry Disease Patients

Background. Fabry disease (FD) is a rare genetic lysosomal disease with an estimated prevalence of 1:100000. Mutations on the GLA gene lead to alpha-galactosidase deficiency and multiorgan involvement due to sphingolipid accumulation. Our aim was to present and analyze the demographic and clinical c...

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Detalles Bibliográficos
Autores principales: MILITARU, S, ADAM, R, ISMAIL, G, RUSU, E, DULĂMEA, A, JURCUT, R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medical University Publishing House Craiova 2019
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6993771/
https://www.ncbi.nlm.nih.gov/pubmed/32042454
http://dx.doi.org/10.12865/CHSJ.45.03.04

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6993771/
https://www.ncbi.nlm.nih.gov/pubmed/32042454
http://dx.doi.org/10.12865/CHSJ.45.03.04

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