Permanent neonatal diabetes caused by a homozygous nonsense mutation in the glucokinase gene. (Q46735003)

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3 January 2020

title

Permanent neonatal diabetes caused by a homozygous nonsense mutation in the glucokinase gene (English)

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3 January 2020

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3 January 2020

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3 January 2020

O Rubio-Cabezas

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3 January 2020

F Díaz González

series ordinal

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A Aragonés

series ordinal

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publication date

21 February 2008

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3 January 2020

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volume

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issue

3 Pt 1

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3 January 2020

page(s)

245-249

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New ABCC8 mutations in relapsing neonatal diabetes and clinical features

3 January 2020

cites work

1 reference

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Long-term course of neonatal diabetes.

21 January 2018

1 reference

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Insulin gene mutations as a cause of permanent neonatal diabetes

21 January 2018

1 reference

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Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2007.00361.X

Neonatal diabetes: how research unravelling the genetic puzzle has both widened our understanding of pancreatic development whilst improving children's quality of life

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2007.00361.X

Glucokinase (GCK) mutations in hyper- and hypoglycemia: Maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2007.00361.X

Neonatal diabetes mellitus due to complete glucokinase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2007.00361.X

Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2007.00361.X

Permanent neonatal diabetes in an Asian infant.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2007.00361.X

Selected principles of perinatal-neonatal glucose metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2007.00361.X

Transgenic knockouts reveal a critical requirement for pancreatic beta cell glucokinase in maintaining glucose homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2007.00361.X

Neonatal glucose metabolism: differential diagnoses, evaluation, and treatment of hypoglycemia

21 January 2018

1 reference

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Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2007.00361.X

Glucokinase regulates reproductive function, glucocorticoid secretion, food intake, and hypothalamic gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2007.00361.X

Glucokinase gene mutations are not a common cause of permanent neonatal diabetes in France

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-5448.2007.00361.X

10.1111/J.1399-5448.2007.00361.X

21 January 2018

Identifiers

DOI

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3 January 2020

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