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Article

Thiamine-responsive megaloblastic anemia syndrome: a disorder of high-affinity thiamine transport.

Blood cells, molecules & diseases - 1 Jan 2000

Neufeld E J, Fleming J C, Tartaglini E, Steinkamp M P

Abstract excerpt

Thiamine-responsive megaloblastic anemia (TRMA) syndrome (OMIM No. 249270) comprises a distinctive triad of clinical features: megaloblastic anemia with ringed sideroblasts, diabetes mellitus, and progressive sensorineural deafness. The TRMA gene has been mapped and cloned. Designated "SLC19A2" as a member of the solute carrier gene superfamily, this gene is mutated in all TRMA kindreds studied to date. The...

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Identifiers

PMID: 11358373
DOI: 10.1006/bcmd.2000.0356

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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