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Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome

AIMS/HYPOTHESIS: Diabetes is one of the cardinal features of thiamine-responsive megaloblastic anaemia (TRMA) syndrome. Current knowledge of this rare monogenic diabetes subtype is limited. We investigated the genotype, phenotype and response to thiamine (vitamin B(1)) in a cohort of individuals wit...

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Detalles Bibliográficos
Autores principales: Habeb, Abdelhadi M., Flanagan, Sarah E., Zulali, Mohamed A., Abdullah, Mohamed A., Pomahačová, Renata, Boyadzhiev, Veselin, Colindres, Lesby E., Godoy, Guillermo V., Vasanthi, Thiruvengadam, Al Saif, Ramlah, Setoodeh, Aria, Haghighi, Amirreza, Haghighi, Alireza, Shaalan, Yomna, Hattersley, Andrew T., Ellard, Sian, De Franco, Elisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6449001/
https://www.ncbi.nlm.nih.gov/pubmed/29450569
http://dx.doi.org/10.1007/s00125-018-4554-x