Endocrine disorders in patients with Fabry disease: insights from a reference centre prospective study

CONTEXT: Fabry Disease (FD) is a rare X-linked storage disease characterised by a-galactosidase A deficiency and diffuse organ accumulation of glycosphingolipids. Enzyme replacement and chaperone therapies are only partially effective. It remains unclear if FD-related endocrine disorders contribute...

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Detalles Bibliográficos
Autores principales: Bothou, Christina, Beuschlein, Felix, Nowak, Albina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8888367/
https://www.ncbi.nlm.nih.gov/pubmed/34751898
http://dx.doi.org/10.1007/s12020-021-02918-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8888367/
https://www.ncbi.nlm.nih.gov/pubmed/34751898
http://dx.doi.org/10.1007/s12020-021-02918-4

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