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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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| Publicado no: | Eur J Pediatr |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5511307/ https://ncbi.nlm.nih.gov/pubmed/28646478 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00431-017-2950-8 |
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