Fabry pedigree analysis: A successful program for targeted genetic approach

BACKGROUND: Fabry disease (FD) is an X‐linked disorder of glycosphingolipid catabolism caused by a deficiency of the lysosomal enzyme alpha‐galactosidase A (GLA). FD is still an underdiagnosed disorder worldwide. Moreover, there is delay between symptom onset and Fabry diagnosis of at least 10 years...

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Detalles Bibliográficos
Autores principales: Rozenfeld, Paula A., Masllorens, Francisca M., Roa, Norma, Rodriguez, Fernanda, Bonnano, Mariela, Yvorra, Carolina, Ceci, Romina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625140/
https://www.ncbi.nlm.nih.gov/pubmed/31169365
http://dx.doi.org/10.1002/mgg3.794

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625140/
https://www.ncbi.nlm.nih.gov/pubmed/31169365
http://dx.doi.org/10.1002/mgg3.794

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