Newborn screening for Fabry disease in the north-west of Spain

Fabry disease is an X-linked lysosomal storage disorder caused by the impairment of α-galactosidase A. Enzyme replacement therapy is available to treat patients, who often experience delayed diagnosis. A newborn screening for Fabry disease was performed to study the prevalence of the pathology and t...

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Detalles Bibliográficos
Autores principales: Colon, Cristobal, Ortolano, Saida, Melcon-Crespo, Cristina, Alvarez, Jose V., Lopez-Suarez, Olalla E., Couce, Maria L., Fernández-Lorenzo, José R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2017
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511307/
https://www.ncbi.nlm.nih.gov/pubmed/28646478
http://dx.doi.org/10.1007/s00431-017-2950-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511307/
https://www.ncbi.nlm.nih.gov/pubmed/28646478
http://dx.doi.org/10.1007/s00431-017-2950-8

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