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Literature DB >> 9435328

Familial hyperinsulinism caused by an activating glucokinase mutation.

B Glaser¹, P Kesavan, M Heyman, E Davis, A Cuesta, A Buchs, C A Stanley, P S Thornton, M A Permutt, F M Matschinsky, K C Herold.

Abstract

Entities: Disease Gene Mutation Species

Mesh：

Substances：

Year: 1998 PMID： 9435328 DOI： 10.1056/NEJM199801223380404

Source DB: PubMed Journal: N Engl J Med ISSN： 0028-4793 Impact factor: 91.245

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138 in total

Review 1. Genetic hypoglycaemia in infancy and childhood: pathophysiology and diagnosis.

Authors: J M Saudubray; P de Lonlay; G Touati; D Martin; M C Nassogne; P Castelnau; C Sevin; C Laborde; C Baussan; M Brivet; A Vassault; D Rabier; J P Bonnefont; P Kamoun
Journal: J Inherit Metab Dis Date: 2000-05 Impact factor: 4.982

2. Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1.

Authors: H Huopio; F Reimann; R Ashfield; J Komulainen; H L Lenko; J Rahier; I Vauhkonen; J Kere; M Laakso; F Ashcroft; T Otonkoski
Journal: J Clin Invest Date: 2000-10 Impact factor: 14.808

3. Calcium-stimulated insulin secretion in diffuse and focal forms of congenital hyperinsulinism.

Authors: R J Ferry; A Kelly; A Grimberg; S Koo-McCoy; M J Shapiro; K E Fellows; B Glaser; L Aguilar-Bryan; D E Stafford; C A Stanley
Journal: J Pediatr Date: 2000-08 Impact factor: 4.406

4. Dysregulation of insulin secretion in children with congenital hyperinsulinism due to sulfonylurea receptor mutations.

Authors: A Grimberg; R J Ferry; A Kelly; S Koo-McCoy; K Polonsky; B Glaser; M A Permutt; L Aguilar-Bryan; D Stafford; P S Thornton; L Baker; C A Stanley
Journal: Diabetes Date: 2001-02 Impact factor: 9.461

5. Thermal stability of glucokinase (GK) as influenced by the substrate glucose, an allosteric glucokinase activator drug (GKA) and the osmolytes glycerol and urea.

Authors: B Zelent; C Buettger; J Grimsby; R Sarabu; J M Vanderkooi; A J Wand; F M Matschinsky
Journal: Biochim Biophys Acta Date: 2012-03-16

Familial hyperinsulinism caused by an activating glucokinase mutation.

Review 1. Genetic hypoglycaemia in infancy and childhood: pathophysiology and diagnosis.

2. Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1.

3. Calcium-stimulated insulin secretion in diffuse and focal forms of congenital hyperinsulinism.

4. Dysregulation of insulin secretion in children with congenital hyperinsulinism due to sulfonylurea receptor mutations.

5. Thermal stability of glucokinase (GK) as influenced by the substrate glucose, an allosteric glucokinase activator drug (GKA) and the osmolytes glycerol and urea.

6. Insulin secretion and insulin-producing tumors.

7. Do insulinotropic glucose-lowering drugs do more harm than good? The hypersecretion hypothesis revisited.

8. Association with nitric oxide synthase on insulin secretory granules regulates glucokinase protein levels.

Review 9. Neonatal hypoglycemia: is 60 the new 40? The questions remain the same.

Review 10. Genetic characteristics of patients with congenital hyperinsulinism.