Literature DB >> 19347672

Thiamine responsive megaloblastic anemia syndrome.

Ramaswamy Ganesh1, S Ezhilarasi, Thiruvengadam Vasanthi, Kalpana Gowrishankar, Sarala Rajajee.   

Abstract

Thiamine responsive megaloblastic anemia syndrome (TRMA) is a clinical triad characterized by thiamine-responsive anemia, diabetes mellitus and sensorineural deafness. We report a 4-year-old girl with TRMA whose anemia improved following administration of thiamine and this case report sensitizes the early diagnosis and treatment with thiamine in children presenting with anemia, diabetes and deafness.

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Year:  2009        PMID： 19347672     DOI： 10.1007/s12098-009-0058-5

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  5 in total

1.  Acute ischemic stroke in a young woman with the thiamine-responsive megaloblastic anemia syndrome.

Authors:  V Villa; A Rivellese; F Di Salle; C Iovine; V Poggi; B Capaldo
Journal:  J Clin Endocrinol Metab       Date:  2000-03       Impact factor: 5.958

2.  Localization of the gene for thiamine-responsive megaloblastic anemia syndrome, on the long arm of chromosome 1, by homozygosity mapping.

Authors:  E J Neufeld; H Mandel; T Raz; R Szargel; C N Yandava; A Stagg; S Fauré; T Barrett; N Buist; N Cohen
Journal:  Am J Hum Genet       Date:  1997-12       Impact factor: 11.025

3.  Thiamine-responsive megaloblastic anemia syndrome (TRMA) with cone-rod dystrophy.

Authors:  F M Meire; K Lemmens; M H Ens-Dokkum
Journal:  Ophthalmic Genet       Date:  2000-12       Impact factor: 1.803

4.  Male infertility and thiamine-dependent erythroid hypoplasia in mice lacking thiamine transporter Slc19a2.

Authors:  Judith C Fleming; Elena Tartaglini; Ryosuke Kawatsuji; David Yao; Yuko Fujiwara; Jeffrey J Bednarski; Mark D Fleming; Ellis J Neufeld
Journal:  Mol Genet Metab       Date:  2003 Sep-Oct       Impact factor: 4.797

Review 5.  Cardiac manifestations in thiamine-responsive megaloblastic anemia syndrome.

Authors:  A Lorber; A Z Gazit; A Khoury; Y Schwartz; H Mandel
Journal:  Pediatr Cardiol       Date:  2003 Sep-Oct       Impact factor: 1.655
  5 in total
  6 in total

1.  Megaloblastic anemia--a rare cause.

Authors:  Sanjib Kr Debnath; Anju Aggarwal; Hema Mittal
Journal:  Indian J Pediatr       Date:  2011-06-01       Impact factor: 1.967

2.  Thiamine responsive megaloblastic anemia in three Indian children.

Authors:  Vykunta Raju K N Gowda; Govindaraj M Shivananda; Naveen Sankhyan
Journal:  Indian J Pediatr       Date:  2011-02-22       Impact factor: 1.967

3.  Right ventricular dysfunction in thiamine-responsive megaloblastic anaemia syndrome: a case report.

Authors:  Sedigheh Saedi; Majid Maleki; Sepideh Pezeshki
Journal:  Heart Asia       Date:  2011-01-01

4.  Neonatal diabetes mellitus: remission induced by novel therapy.

Authors:  Pradip Dalwadi; Ameya S Joshi; Darshana Sudip Thakur; Nikhil M Bhagwat
Journal:  BMJ Case Rep       Date:  2019-06-25

Review 5.  Infantile onset diabetes mellitus in developing countries - India.

Authors:  Poovazhagi Varadarajan
Journal:  World J Diabetes       Date:  2016-03-25

6.  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
  6 in total

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