(Q28142720)

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Novel missense mutations in the glutamate dehydrogenase gene in the congenital hyperinsulinism-hyperammonemia syndrome

scientific article (publication date: 2000)

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title

Novel missense mutations in the glutamate dehydrogenase gene in the congenital hyperinsulinism-hyperammonemia syndrome (English)

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main subject

congenital disorder

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hyperinsulinism-hyperammonemia syndrome

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Y Miki

1

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T Taki

series ordinal

2

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T Ohura

series ordinal

3

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H Kato

series ordinal

4

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M Yanagisawa

series ordinal

5

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Y Hayashi

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6

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language of work or name

English

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publication date

January 2000

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published in

The Journal of Pediatrics

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volume

136

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page(s)

69-72

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issue

1

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cites work

Cloning of the beta cell high-affinity sulfonylurea receptor: a regulator of insulin secretion

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https://api.crossref.org/works/10.1016%2FS0022-3476%2800%2990052-0

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7 January 2021

Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy

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Crossref

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https://api.crossref.org/works/10.1016%2FS0022-3476%2800%2990052-0

retrieved

7 January 2021

Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor

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https://api.crossref.org/works/10.1016%2FS0022-3476%2800%2990052-0

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7 January 2021

Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy

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https://api.crossref.org/works/10.1016%2FS0022-3476%2800%2990052-0

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7 January 2021

Familial hyperinsulinism caused by an activating glucokinase mutation

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https://api.crossref.org/works/10.1016%2FS0022-3476%2800%2990052-0

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7 January 2021

Biochemical evaluation of a patient with a familial form of leucine-sensitive hypoglycemia and concomitant hyperammonemia

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https://api.crossref.org/works/10.1016%2FS0022-3476%2800%2990052-0

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7 January 2021

A syndrome of congenital hyperinsulinism and hyperammonemia.

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https://api.crossref.org/works/10.1016%2FS0022-3476%2800%2990052-0

retrieved

7 January 2021

Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene

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reference URL

https://api.crossref.org/works/10.1016%2FS0022-3476%2800%2990052-0

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7 January 2021

Hyperinsulinaemic hypoglycaemia associated with persistent hyperammonaemia

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reference URL

https://api.crossref.org/works/10.1016%2FS0022-3476%2800%2990052-0

retrieved

7 January 2021

Identifiers

DOI

10.1016/S0022-3476(00)90052-0

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PubMed ID

10636977

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(Q28142720)

Novel missense mutations in the glutamate dehydrogenase gene in the congenital hyperinsulinism-hyperammonemia syndrome

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