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Article

Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report.

European journal of pediatrics - 1 Dec 2014

Akbari Mohammad Taghi, Zare Karizi Shohreh, Mirfakhraie Reza, Keikhaei Bijan

Abstract excerpt

UNLABELLED: Thiamine-responsive megaloblastic anemia (TRMA) or Roger syndrome is a rare autosomal recessive disorder characterized by the occurrence of multiple clinical manifestations including megaloblastic anemia, diabetes mellitus, and sensorineural deafness. A few patients have been also described with congenital cardiac malformations. The patients usually respond to treatment with pharmacological doses of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24357267
DOI: 10.1007/s00431-013-2237-7

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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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