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Article

Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update.

The Journal of pediatrics - 1 Dec 2009

Bergmann Anke K, Sahai Inderneel, Falcone Jill F, Fleming Judy, Bagg Adam, Borgna-Pignati Caterina, Casey Robin, Fabris Luca, Hexner Elizabeth, Mathews Lulu, Ribeiro Maria Leticia, Wierenga Klaas J, Neufeld Ellis J

Abstract excerpt

OBJECTIVE: To determine causative mutations and clinical status of 7 previously unreported kindreds with TRMA syndrome, (thiamine-responsive megaloblastic anemia, online Mendelian inheritance in man, no. 249270), a recessive disorder of thiamine transporter Slc19A2. STUDY DESIGN: Genomic DNA was purified from blood, and SLC19A2 mutations were characterized by sequencing polymerase chain reaction-amplified coding...

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Identifiers

PMID: 19643445
DOI: 10.1016/j.jpeds.2009.06.017
PMCID: PMC2858590

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Source receipt: pubmed, retrieved 7 Sept 2026.

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