Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients

BACKGROUND: Fabry disease is a rare X-linked inherited disorder caused by deficiency of α-Galactosidase A. Hundreds of mutations and non-coding haplotypes in the GLA gene have been described; however, many are variants of unknown significance, prompting doubts about the diagnosis and treatment. The...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Varela, Patrícia, Mastroianni Kirsztajn, Gianna, Motta, Fabiana L., Martin, Renan P., Turaça, Lauro T., Ferrer, Henrique L. F., Gomes, Caio P., Nicolicht, Priscila, Mara Marins, Maryana, Pessoa, Juliana G., Braga, Marion C., D’Almeida, Vânia, Martins, Ana Maria, Pesquero, João B.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6990533/
https://ncbi.nlm.nih.gov/pubmed/31996269
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1274-3
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