(Q33642045)

English

Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19884385%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19884385%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Fabrizio Barbetti

1

1 reference

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11 February 2020

Nadia Cobo-Vuilleumier

2

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11 February 2020

Carlo Dionisi-Vici

3

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11 February 2020

Maria Adelaida Garcia-Gimeno

10

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11 February 2020

Francisco-Javier Bermudez-Silva

11

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11 February 2020

15

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11 February 2020

16

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11 February 2020

author name string

Sonia Toni

4

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11 February 2020

Paolo Ciampalini

5

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11 February 2020

Ornella Massa

6

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11 February 2020

Pablo Rodriguez-Bada

7

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11 February 2020

Carlo Colombo

8

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11 February 2020

Lorenzo Lenzi

9

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11 February 2020

Fernando Rodriguez de Fonseca

12

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11 February 2020

Patrizia Banin

13

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11 February 2020

Juan C Aledo

14

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11 February 2020

Antonio L Cuesta-Muñoz

17

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11 February 2020

publication date

2 November 2009

1 reference

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11 February 2020

Molecular Endocrinology

1 reference

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11 February 2020

23

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11 February 2020

12

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11 February 2020

1983-1989

1 reference

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11 February 2020

Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419125

21 June 2018

Assessing the potential of glucokinase activators in diabetes therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419125

21 June 2018

Extremes of clinical and enzymatic phenotypes in children with hyperinsulinism caused by glucokinase activating mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419125

21 June 2018

Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419125

21 June 2018

Hyperinsulinism/hyperammonemia syndrome: insights into the regulatory role of glutamate dehydrogenase in ammonia metabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419125

21 June 2018

Structural basis for allosteric regulation of the monomeric allosteric enzyme human glucokinase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419125

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419125

21 June 2018

Regulation of pancreatic beta-cell glucokinase: from basics to therapeutics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419125

21 June 2018

High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419125

21 June 2018

Mutants of glucokinase cause hypoglycaemia- and hyperglycaemia syndromes and their analysis illuminates fundamental quantitative concepts of glucose homeostasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419125

21 June 2018

Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinase mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419125

21 June 2018

Familial hyperinsulinism caused by an activating glucokinase mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419125

28 July 2018

Diagnostic difficulties in glucokinase hyperinsulinism.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419125

30 October 2018

Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419125

30 October 2018

Phenotypic heterogeneity between different mutations of MODY subtypes and within MODY pedigrees

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419125

30 October 2018

Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419125

30 October 2018

Urinary alpha-ketoglutarate is elevated in patients with hyperinsulinism-hyperammonemia syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419125

30 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419125

30 October 2018

The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419125

30 October 2018

Neonatal diabetes mellitus due to complete glucokinase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5419125

30 October 2018

Normal values of first-phase insulin response to intravenous glucose in healthy Italian children and adolescents

1 reference

https://pubmed.ncbi.nlm.nih.gov/19884385

12 December 2020

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10.1210/ME.2009-0094

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19884385%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19884385%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19884385%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

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