Cryptogenic stroke and small fiber neuropathy of unknown etiology in patients with alpha-galactosidase A -10T genotype

BACKGROUND: Fabry disease (FD) is a multisystemic disorder with typical neurological manifestations such as stroke and small fiber neuropathy (SFN), caused by mutations of the alpha-galactosidase A (GLA) gene. We analyzed 15 patients carrying the GLA haplotype -10C>T [rs2071225], IVS2-81_-77delCA...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Schelleckes, Michael, Lenders, Malte, Guske, Katrin, Schmitz, Boris, Tanislav, Christian, Ständer, Sonja, Metze, Dieter, Katona, Istvan, Weis, Joachim, Brand, Stefan-Martin, Duning, Thomas, Brand, Eva
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4255940/
https://ncbi.nlm.nih.gov/pubmed/25423912
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0178-5
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