Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia-Reference-Cited by-同舟云学术

Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia

Published:2012-02-27 Issue:4 Volume:13 Page:314-321
ISSN:1399-543X
Container-title:Pediatric Diabetes
language:en
Short-container-title:Pediatr Diabetes

Author:

Shaw-Smith Charles¹,Flanagan Sarah E¹,Patch Ann-Marie¹,Grulich-Henn Juergen²,Habeb Abdelhadi M³,Hussain Khalid⁴,Pomahacova Renata⁵,Matyka Krystyna⁶,Abdullah Mohamed⁷,Hattersley Andrew T¹,Ellard Sian¹

Affiliation:

1. Institute of Biomedical and Clinical Science; Peninsula Medical School; University of Exeter; Exeter; EX2 5DW; UK

2. Department of Pediatrics; University of Heidelberg; Im Neuenheimer Feld 430; D-69120; Heidelberg; Germany

3. Pediatric Endocrine Unit; Maternity and Children Hospital; P. O. Box 25374; Al-Madinah; Saudi Arabia

4. UK Clinical and Molecular Genetics Unit; UCL Institute of Child Health and Great Ormond Street Hospital for Children; 30 Guilford Street; London; WC1N 1EH; UK

5. Department of Pediatrics; Charles University Hospital; Plzen; Czech Republic

6. Division of Metabolic and Vascular Health; Warwick Medical School; Clinical Sciences Research Laboratories; University Hospital; Clifford Bridge Road; Coventry; CV2 2DX; UK

7. Department of Pediatric Endocrinology; Faculty of Medicine; University of Khartoum; P. O. Box 102 Khartoum; Sudan

Publisher

Wiley

Subject

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

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-5448.2012.00855.x/fullpdf

Reference22 articles.

1. Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes;Murphy;Nat Clin Pract Endocrinol Metab,2008

2. Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities;Rubio-Cabezas;Diabetes,2010

3. Permanent neonatal diabetes and enteric anendocrinosis associated with biallelic mutations in NEUROG3;Rubio-Cabezas;Diabetes,2011

4. Thiamine-responsive megaloblastic anemia syndrome: a disorder of high-affinity thiamine transport;Neufeld;Blood Cells Mol Dis,2001

5. Thiamine-responsive megaloblastic anaemia syndrome: long-term follow-up and mutation analysis of seven families;Ricketts;Acta Paediatr,2006

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