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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...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2017
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Materias: | |
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 |