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Thiamine-responsive megaloblastic anemia (TRMA) in an Austrian boy with compound heterozygousSLC19A2mutations

✍ Scribed by Pichler, Herbert; Zeitlhofer, Petra; Dworzak, Michael N.; Diakos, Christopher; Haas, Oskar A.; Kager, Leo

Book ID: 118785289
Publisher: Springer
Year: 2012
Tongue: English
Weight: 273 KB
Volume: 171
Category: Article
ISSN: 0340-6997
DOI: 10.1007/s00431-012-1730-8

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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