Thiamine responsive megaloblastic anemia syndrome: A novel homozygousSLC19A2gene mutation identified-Reference-Cited by-同舟云学术

Thiamine responsive megaloblastic anemia syndrome: A novel homozygousSLC19A2gene mutation identified

Published:2015-02-23 Issue:7 Volume:167 Page:1605-1609
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Mikstiene Violeta¹,Songailiene Jurgita¹,Byckova Jekaterina²,Rutkauskiene Giedre³,Jasinskiene Edita⁴,Verkauskiene Rasa⁴,Lesinskas Eugenijus²,Utkus Algirdas¹

Affiliation:

1. Department of Human and Medical Genetics, Faculty of Medicine; Vilnius University; Vilnius Lithuania

2. Centre of Ear, Nose and Throat Diseases; Vilnius University Hospital Santariškių Clinics; Vilnius Lithuania

3. Pediatric Oncology and Hematology Unit; Hospital of Lithuanian university of Health Sciences, Kaunas Clinics; Kaunas Lithuania

4. Department of Endocrinology; Hospital of Lithuanian University of Health Science, Kaunas Clinics; Kaunas Lithuania

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37015/fullpdf

Reference24 articles.

1. Thiamine-responsive megaloblastic anemia: Identification of novel compound heterozygotes and mutation update;Bergmann;J Pediatr,2009

2. Thiamine-responsive anemia in DIDMOAD syndrome;Borgna-Pignatti;J Pediatr,1989

3. Defective RNA ribose synthesis in fibroblasts from patients with thiamine-responsive megaloblastic anemia (TRMA);Boros;Blood,2003

4. Effect of thiamine on 3H-MPP+ uptake by Caco-2 cells;Calhau;Pharmacol Res,2003

5. Cloning of the human thiamine transporter, a member of the folate transporter family;Dutta;J Biol Chem,1999

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