Literature DB >> 19610542

A rare case of thiamine-responsive megaloblastic anaemia syndrome: a disorder of high-affinity thiamine transport.

M A Naeem1, A Shabaz, A Shoaib, M Usman.   

Abstract

A three year old boy presented with sensory neural hearing loss since birth, Diabetes mellitus and anaemia. On investigation he was found to be suffering from thiamine responsive megaloblastic anaemia (TRMA) a very rare condition diagnosed in our settings.

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Year:  2008        PMID： 19610542

Source DB:  PubMed          Journal:  J Ayub Med Coll Abbottabad        ISSN： 1025-9589


  2 in total

1.  Case Report: Genetic and Clinical Features of Maternal Uniparental Isodisomy-Induced Thiamine-Responsive Megaloblastic Anemia Syndrome.

Authors:  Pengjiang Kang; Weihua Zhang; Jinquan Wen; Jiming Zhang; Fei Li; Wuxia Sun
Journal:  Front Pediatr       Date:  2021-03-19       Impact factor: 3.418

2.  Thiamine responsive megaloblastic anemia syndrome associated with patent ductus arteriosus: First case report from Kashmir Valley of the Indian subcontinent.

Authors:  Mohd Ashraf Ganie; Imran Ali; A G Ahangar; Mohd Maqbool Wani; Sanjeed Ahmed; Manzoor Ahmed Bhat; Sulaiman Seth; Syed Mudasir
Journal:  Indian J Endocrinol Metab       Date:  2012-07
  2 in total

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