Literature DB >> 19619756

Thiamine-responsive megaloblastic anemia syndrome: long term follow-up.

Caterina Borgna-Pignatti1, Milena Azzalli, Stefania Pedretti.   

Abstract

Thiamine-responsive megaloblastic anemia is a rare autosomal recessive disorder whose main symptoms are anemia, diabetes mellitus, and sensorineural deafness. We describe a 20-year follow-up of 2 previously reported patients and of 1 patient diagnosed before onset of symptoms and treated with thiamine since the first sign of disease.

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Year:  2009        PMID: 19619756     DOI: 10.1016/j.jpeds.2009.01.062

Source DB:  PubMed          Journal:  J Pediatr        ISSN: 0022-3476            Impact factor:   4.406


  8 in total

Review 1.  Defects of thiamine transport and metabolism.

Authors:  Garry Brown
Journal:  J Inherit Metab Dis       Date:  2014-05-01       Impact factor: 4.982

2.  Thiamine-responsive megaloblastic anemia syndrome.

Authors:  Ali Bay; Mehmet Keskin; Samil Hizli; Hatice Uygun; Alper Dai; Fatma Gumruk
Journal:  Int J Hematol       Date:  2010-09-11       Impact factor: 2.490

3.  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

4.  Thiamine-responsive megaloblastic anemia (TRMA) in an Austrian boy with compound heterozygous SLC19A2 mutations.

Authors:  Herbert Pichler; Petra Zeitlhofer; Michael N Dworzak; Christopher Diakos; Oskar A Haas; Leo Kager
Journal:  Eur J Pediatr       Date:  2012-05-11       Impact factor: 3.183

5.  Does early treatment prevent deafness in thiamine-responsive megaloblastic anaemia syndrome?

Authors:  Leyla Akın; Selim Kurtoğlu; Mustafa Kendirci; Mustafa Ali Akın; Musa Karakükçü
Journal:  J Clin Res Pediatr Endocrinol       Date:  2011-02-23

Review 6.  Endocrine manifestations related to inherited metabolic diseases in adults.

Authors:  Marie-Christine Vantyghem; Dries Dobbelaere; Karine Mention; Jean-Louis Wemeau; Jean-Marie Saudubray; Claire Douillard
Journal:  Orphanet J Rare Dis       Date:  2012-01-28       Impact factor: 4.123

7.  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

8.  Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.

Authors:  Abdelhadi M Habeb; Sarah E Flanagan; Mohamed A Zulali; Mohamed A Abdullah; Renata Pomahačová; Veselin Boyadzhiev; Lesby E Colindres; Guillermo V Godoy; Thiruvengadam Vasanthi; Ramlah Al Saif; Aria Setoodeh; Amirreza Haghighi; Alireza Haghighi; Yomna Shaalan; Andrew T Hattersley; Sian Ellard; Elisa De Franco
Journal:  Diabetologia       Date:  2018-02-15       Impact factor: 10.122

  8 in total

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