Open AccessThiamine transporter mutation: an example of monogenic diabetes mellitus
Author(s) -
Ali S. Alzahrani,
Essa Y. Baitei,
Minjing Zou,
Yufei Shi
Publication year - 2006
Publication title -
european journal of endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.897
H-Index - 148
eISSN - 1479-683X
pISSN - 0804-4643
DOI - 10.1530/eje.1.02305
Subject(s) - medicine , diabetes mellitus , endocrinology , thiamine , mutation , transporter , thiamine deficiency , genetics , biology , gene
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.
Accelerating Research
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom
Address
John Eccles HouseRobert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom