Presymptomatic diagnosis of Fabry’s disease: a case report

BACKGROUND: Fabry’s disease is a rare X-linked genetic disorder characterized by reduced levels of the α-galactosidase A enzyme. It may present with a cardiac phenotype resembling hypertrophic cardiomyopathy. However, as a specific enzyme replacement therapy is available, it remains an important dif...

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Detalles Bibliográficos
Autores principales: Hasselbalch, Rasmus Bo, Madsen, Per Lav, Bundgaard, Henning, Theilade, Juliane
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5129214/
https://www.ncbi.nlm.nih.gov/pubmed/27899143
http://dx.doi.org/10.1186/s13256-016-1124-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5129214/
https://www.ncbi.nlm.nih.gov/pubmed/27899143
http://dx.doi.org/10.1186/s13256-016-1124-z

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