Thiamine responsive megaloblastic anemia: a novelSLC19A2compound heterozygous mutation in two siblings-Reference-Cited by-同舟云学术

Thiamine responsive megaloblastic anemia: a novelSLC19A2compound heterozygous mutation in two siblings

Published:2013-01-04 Issue:5 Volume:14 Page:384-387
ISSN:1399-543X
Container-title:Pediatric Diabetes
language:en
Short-container-title:Pediatr Diabetes

Author:

Mozzillo Enza,Melis Daniela¹,Falco Mariateresa¹,Fattorusso Valentina¹,Taurisano Roberta¹,Flanagan Sarah E²,Ellard Sian²,Franzese Adriana¹

Affiliation:

1. Department of Pediatrics; Federico II University of Naples; Naples; Italy

2. Department of Molecular Genetics; Institute of Biomedical and Clinical Science, Peninsula Medical School, University of Exeter; Exeter; United Kingdom

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health,Internal Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-5448.2012.00921.x/fullpdf

Reference20 articles.

1. Oishi K Diaz GA 2003 http://www.ncbi.nlm.nih.gov/books/NBK1282/

2. A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome;Gritli;Br J Haematol,2001

3. Thiamine-responsive megaloblastic anemia, sensorineural deafness, and diabetes mellitus: a new syndrome?;Viana;J Pediatr,1978

4. Acute ischemic stroke in a young woman with the thiamine-responsive megaloblastic anemia syndrome;Villa;J Clin Endocrinol Metab,2000

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

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