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An extremely rare case of Rogers syndrome or thiamine responsive megaloblastic anemia

Rogers syndrome is an extremely rare autosomal recessive syndrome of which only 100 cases are known worldwide. It is characterized by thiamine-responsive megaloblastic anaemia, diabetes mellitus and sensorineural deafness. It results from the deficiency of a thiamine transporter protein. We herein r...

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主要な著者: Gurpreet Kaur, Ankur Ahuja, Arijit Sen, Paresh Singhal, Renjith Verghese
フォーマット: Artigo
言語:Inglês
出版事項: Wolters Kluwer Medknow Publications 2025-01-01
シリーズ:Indian Journal of Pathology and Microbiology
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オンライン・アクセス:https://journals.lww.com/10.4103/ijpm.ijpm_287_23
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