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Thiamine transporter mutation: an example of monogenic diabetes mellitus

28 Nov 2006

Abstract excerpt

OBJECTIVE: Thiamine-responsive megaloblastic anemia (TRMA) is a rare syndrome characterized by diabetes mellitus (DM), anemia, and sensorineural deafness. We describe the clinical course and the molecular defect of a young woman who was diagnosed to have this syndrome. CASE: The patient is an 18-year-old girl who was born to non-consanguous parents. She was noted to be deaf-mute in the first year of life. She was...

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PMID: 17132746
DOI: 10.1530/eje.1.02305

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