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A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome.

The Turkish journal of pediatrics - 1 Jan 2019

Odaman-Al Işık, Gezdirici Alper, Yıldız Melek, Ersoy Gizem, Aydoğan Gönül, Şalcıoğlu Zafer, Tahtakesen Tuba Nur, Önal Hasan, Küçükemre-Aydın Banu

Abstract excerpt

Odaman-Al I, Gezdirici A, Yıldız M, Ersoy G, Aydoğan G, Şalcıoğlu Z, Tahtakesen TN, Önal H, Küçükemre-Aydın B. A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome. Turk J Pediatr 2019; 61: 257-260. Thiamine-responsive megaloblastic anemia (TRMA) is a very rare syndrome characterized by the triad of early onset megaloblastic anemia, sensorineural deafness...

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Identifiers

PMID: 31951336
DOI: 10.24953/turkjped.2019.02.015

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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