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Thiamine-Responsive Megaloblastic Anemia: Identification of Novel Compound Heterozygotes and Mutation Update

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


Book ID
113745424
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
187 KB
Volume
155
Category
Article
ISSN
1097-6833

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Thiamine responsive megaloblastic anemia (TRMA) is an autosomal recessive disorder with a triad of symptoms: megaloblastic anemia, deafness, and non-type 1 diabetes mellitus. Occasionally, cardiac abnormalities and abnormalities of the optic nerve and retina occur as well. Patients with TRMA often r