198 related articles for article (PubMed ID: 22583614)
1. Leucine-sensitive hyperinsulinaemic hypoglycaemia in patients with loss of function mutations in 3-Hydroxyacyl-CoA Dehydrogenase.
Heslegrave AJ; Kapoor RR; Eaton S; Chadefaux B; Akcay T; Simsek E; Flanagan SE; Ellard S; Hussain K
Orphanet J Rare Dis; 2012 May; 7():25. PubMed ID: 22583614
[TBL] [Abstract][Full Text] [Related]
2. Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase.
Li C; Chen P; Palladino A; Narayan S; Russell LK; Sayed S; Xiong G; Chen J; Stokes D; Butt YM; Jones PM; Collins HW; Cohen NA; Cohen AS; Nissim I; Smith TJ; Strauss AW; Matschinsky FM; Bennett MJ; Stanley CA
J Biol Chem; 2010 Oct; 285(41):31806-18. PubMed ID: 20670938
[TBL] [Abstract][Full Text] [Related]
3. Novel insights into fatty acid oxidation, amino acid metabolism, and insulin secretion from studying patients with loss of function mutations in 3-hydroxyacyl-CoA dehydrogenase.
Heslegrave AJ; Hussain K
J Clin Endocrinol Metab; 2013 Feb; 98(2):496-501. PubMed ID: 23253615
[TBL] [Abstract][Full Text] [Related]
4. 3-Hydroxyacyl-coenzyme A dehydrogenase deficiency and hyperinsulinemic hypoglycemia: characterization of a novel mutation and severe dietary protein sensitivity.
Kapoor RR; James C; Flanagan SE; Ellard S; Eaton S; Hussain K
J Clin Endocrinol Metab; 2009 Jul; 94(7):2221-5. PubMed ID: 19417036
[TBL] [Abstract][Full Text] [Related]
5. Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees.
Flanagan SE; Patch AM; Locke JM; Akcay T; Simsek E; Alaei M; Yekta Z; Desai M; Kapoor RR; Hussain K; Ellard S
J Clin Endocrinol Metab; 2011 Mar; 96(3):E498-502. PubMed ID: 21252247
[TBL] [Abstract][Full Text] [Related]
6. Protein-induced hyperinsulinaemic hypoglycaemia due to a homozygous HADH mutation in three siblings of a Saudi family.
Babiker O; Flanagan SE; Ellard S; Al Girim H; Hussain K; Senniappan S
J Pediatr Endocrinol Metab; 2015 Sep; 28(9-10):1073-7. PubMed ID: 25915078
[TBL] [Abstract][Full Text] [Related]
7. Two genetic forms of hyperinsulinemic hypoglycemia caused by dysregulation of glutamate dehydrogenase.
Stanley CA
Neurochem Int; 2011 Sep; 59(4):465-72. PubMed ID: 21130127
[TBL] [Abstract][Full Text] [Related]
8. Hyperinsulinism and hyperammonemia syndrome: report of twelve unrelated patients.
De Lonlay P; Benelli C; Fouque F; Ganguly A; Aral B; Dionisi-Vici C; Touati G; Heinrichs C; Rabier D; Kamoun P; Robert JJ; Stanley C; Saudubray JM
Pediatr Res; 2001 Sep; 50(3):353-7. PubMed ID: 11518822
[TBL] [Abstract][Full Text] [Related]
9. Functional evaluation of 16 SCHAD missense variants: Only amino acid substitutions causing congenital hyperinsulinism of infancy lead to loss-of-function phenotypes in vitro.
Velasco K; St-Louis JL; Hovland HN; Thompson N; Ottesen Å; Choi MH; Pedersen L; Njølstad PR; Arnesen T; Fjeld K; Aukrust I; Myklebust LM; Molven A
J Inherit Metab Dis; 2021 Jan; 44(1):240-252. PubMed ID: 32876354
[TBL] [Abstract][Full Text] [Related]
10. Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations.
Kapoor RR; Flanagan SE; Fulton P; Chakrapani A; Chadefaux B; Ben-Omran T; Banerjee I; Shield JP; Ellard S; Hussain K
Eur J Endocrinol; 2009 Nov; 161(5):731-5. PubMed ID: 19690084
[TBL] [Abstract][Full Text] [Related]
11. Molecular mechanisms of protein induced hyperinsulinaemic hypoglycaemia.
Chandran S; Yap F; Hussain K
World J Diabetes; 2014 Oct; 5(5):666-77. PubMed ID: 25317244
[TBL] [Abstract][Full Text] [Related]
12. Effects of a GTP-insensitive mutation of glutamate dehydrogenase on insulin secretion in transgenic mice.
Li C; Matter A; Kelly A; Petty TJ; Najafi H; MacMullen C; Daikhin Y; Nissim I; Lazarow A; Kwagh J; Collins HW; Hsu BY; Nissim I; Yudkoff M; Matschinsky FM; Stanley CA
J Biol Chem; 2006 Jun; 281(22):15064-72. PubMed ID: 16574664
[TBL] [Abstract][Full Text] [Related]
13. Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia.
Senniappan S; Sadeghizadeh A; Flanagan SE; Ellard S; Hashemipour M; Hosseinzadeh M; Salehi M; Hussain K
BMC Res Notes; 2015 Aug; 8():350. PubMed ID: 26268944
[TBL] [Abstract][Full Text] [Related]
14. Spectrum of glutamate dehydrogenase mutations in Japanese patients with congenital hyperinsulinism and hyperammonemia syndrome.
Aso K; Okano Y; Takeda T; Sakamoto O; Ban K; Iida K; Yamano T; Shintaku H
Osaka City Med J; 2011 Jun; 57(1):1-9. PubMed ID: 22106762
[TBL] [Abstract][Full Text] [Related]
15. Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion.
Clayton PT; Eaton S; Aynsley-Green A; Edginton M; Hussain K; Krywawych S; Datta V; Malingre HE; Berger R; van den Berg IE
J Clin Invest; 2001 Aug; 108(3):457-65. PubMed ID: 11489939
[TBL] [Abstract][Full Text] [Related]
16. Unregulated elevation of glutamate dehydrogenase activity induces glutamine-stimulated insulin secretion: identification and characterization of a GLUD1 gene mutation and insulin secretion studies with MIN6 cells overexpressing the mutant glutamate dehydrogenase.
Tanizawa Y; Nakai K; Sasaki T; Anno T; Ohta Y; Inoue H; Matsuo K; Koga M; Furukawa S; Oka Y
Diabetes; 2002 Mar; 51(3):712-7. PubMed ID: 11872671
[TBL] [Abstract][Full Text] [Related]
17. Glutaminolysis and insulin secretion: from bedside to bench and back.
Kelly A; Li C; Gao Z; Stanley CA; Matschinsky FM
Diabetes; 2002 Dec; 51 Suppl 3():S421-6. PubMed ID: 12475785
[TBL] [Abstract][Full Text] [Related]
18. Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase.
Luczkowska K; Stekelenburg C; Sloan-Béna F; Ranza E; Gastaldi G; Schwitzgebel V; Maechler P
Hum Genomics; 2020 Mar; 14(1):9. PubMed ID: 32143698
[TBL] [Abstract][Full Text] [Related]
19. A Deep Intronic HADH Splicing Mutation (c.636+471G>T) in a Congenital Hyperinsulinemic Hypoglycemia Case: Long Term Clinical Course.
Çamtosun E; Flanagan SE; Ellard S; Şıklar Z; Hussain K; Kocaay P; Berberoğlu M
J Clin Res Pediatr Endocrinol; 2015 Jun; 7(2):144-7. PubMed ID: 26316438
[TBL] [Abstract][Full Text] [Related]
20. Hyperinsulinemic Hypoglycemia of Infancy due to Novel HADH Mutation in Two Siblings.
Satapathy AK; Jain V; Ellard S; Flanagan SE
Indian Pediatr; 2016 Oct; 53(10):912-913. PubMed ID: 27771675
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
