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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...
Autores principales: | Bothou, Christina, Beuschlein, Felix, Nowak, Albina |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer US
2021
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Materias: | |
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 |
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