Fabry disease in the Spanish population: observational study with detection of 77 patients

BACKGROUND: Fabry disease is a multisystemic lysosomal storage disorder caused by the impairment of α-galactosidase A. The incidence of this rare disease is underestimated due to delayed diagnosis. Moreover, the management of the identified subjects is often complicated by the detection of variants...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Vieitez, Irene, Souto-Rodriguez, Olga, Fernandez-Mosquera, Lorena, San Millan, Beatriz, Teijeira, Susana, Fernandez-Martin, Julian, Martinez-Sanchez, Felisa, Aldamiz-Echevarria, Luis Jose, Lopez-Rodriguez, Monica, Navarro, Carmen, Ortolano, Saida
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5891901/
https://ncbi.nlm.nih.gov/pubmed/29631605
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0792-8
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