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

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

Abstract 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 v...

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Bibliographic Details
Main Authors: Irene Vieitez, Olga Souto-Rodriguez, Lorena Fernandez-Mosquera, Beatriz San Millan, Susana Teijeira, Julian Fernandez-Martin, Felisa Martinez-Sanchez, Luis Jose Aldamiz-Echevarria, Monica Lopez-Rodriguez, Carmen Navarro, Saida Ortolano
Format: Article
Language:English
Published: BMC 2018-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Fabry disease
Lysosomal storage disorders
Enzymatic screening
Intronic variants
GLA complex haplotype
Online Access:http://link.springer.com/article/10.1186/s13023-018-0792-8

Internet

http://link.springer.com/article/10.1186/s13023-018-0792-8

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