(Q37988542)

26 August 2017

title

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

1 reference

neonatal diabetes mellitus

26 August 2017

main subject

1 reference

Sarah E Flanagan

2

0 references

Sian Ellard

object named as

Sian Ellard

11

0 references

Andrew Tym Hattersley

10

object named as

Andrew T Hattersley

1 reference

26 August 2017

Charles Shaw-Smith

1

1 reference

26 August 2017

Ann-Marie Patch

3

1 reference

26 August 2017

Juergen Grulich-Henn

4

1 reference

26 August 2017

Abdelhadi M Habeb

5

1 reference

26 August 2017

Khalid Hussain

6

1 reference

26 August 2017

Renata Pomahacova

7

1 reference

26 August 2017

Krystyna Matyka

8

1 reference

26 August 2017

Mohamed Abdullah

9

1 reference

26 August 2017

publication date

27 February 2012

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26 August 2017

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26 August 2017

volume

13

1 reference

26 August 2017

issue

4

1 reference

26 August 2017

page(s)

314-321

1 reference

Clinical implications of a molecular genetic classification of monogenic beta-cell diabetes

26 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2012.00855.X

Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2012.00855.X

Permanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2012.00855.X

Thiamine-responsive megaloblastic anemia syndrome: a disorder of high-affinity thiamine transport.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2012.00855.X

Thiamine-responsive megaloblastic anaemia syndrome: long-term follow-up and mutation analysis of seven families

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2012.00855.X

Thiamine-responsive megaloblastic anemia: identification of novel compound heterozygotes and mutation update

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2012.00855.X

Thiamine-responsive megaloblastic anaemia: a cause of syndromic diabetes in childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2012.00855.X

Update in neonatal diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2012.00855.X

Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2012.00855.X

Thiamine-responsive megaloblastic anemia syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2012.00855.X

Thiamine transporter mutation: an example of monogenic diabetes mellitus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2012.00855.X

Novel mutation in the SLC19A2 gene in an African-American female with thiamine-responsive megaloblastic anemia syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2012.00855.X

TRMA syndrome (thiamine-responsive megaloblastic anemia): a case report and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2012.00855.X

A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2012.00855.X

A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2012.00855.X

Thiamine-responsive myelodysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2012.00855.X

Thiamine-responsive anemia in DIDMOAD syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2012.00855.X

Thiamine responsive anaemia: a study of two further cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2012.00855.X

10.1111/J.1399-5448.2012.00855.X

21 January 2018

Identifiers

DOI

1 reference

26 August 2017

1 reference