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Article

Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.

Diabetologia - 1 May 2018

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

Abstract excerpt

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 B1) in a cohort of individuals with TRMA-related diabetes. METHODS: We studied 32 individuals with biallelic SLC19A2 mutations identified by Sanger or...

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Identifiers

PMID: 29450569
DOI: 10.1007/s00125-018-4554-x
PMCID: PMC6449001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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