Different renal phenotypes in related adult males with Fabry disease with the same classic genotype

BACKGROUND: Fabry disease related patients with classical mutation usually exhibit similar severe phenotype especially concerning renal manifestation. METHODS: A dry blood spot screening (DBS) and the DNA analysis has been performed in a 48‐year‐old man (Patient 1) because of paresthesia. RESULTS: T...

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Detalles Bibliográficos
Autores principales: Mignani, Renzo, Moschella, Mariarita, Cenacchi, Giovanna, Donati, Ilaria, Flachi, Marta, Grimaldi, Daniela, Cerretani, Davide, Giovanni, Paola De, Montevecchi, Marcello, Rigotti, Angelo, Ravasio, Alessandro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511792/
https://www.ncbi.nlm.nih.gov/pubmed/28717668
http://dx.doi.org/10.1002/mgg3.292

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5511792/
https://www.ncbi.nlm.nih.gov/pubmed/28717668
http://dx.doi.org/10.1002/mgg3.292

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