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Literature DB >> 9337379

Fasting hypoketotic coma in a child with deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase.

G N Thompson¹, B Y Hsu, J J Pitt, E Treacy, C A Stanley.

Abstract

Entities: Disease Gene Mutation Species

Mesh：

Substances：

Year: 1997 PMID： 9337379 DOI： 10.1056/NEJM199710233371704

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

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20 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

Review 2. Past achievements, current status and future perspectives of studies on 3-hydroxy-3-methylglutaryl-CoA synthase (HMGS) in the mevalonate (MVA) pathway.

Authors: Pan Liao; Hui Wang; Andréa Hemmerlin; Dinesh A Nagegowda; Thomas J Bach; Mingfu Wang; Mee-Len Chye
Journal: Plant Cell Rep Date: 2014-03-30 Impact factor: 4.570

3. Ketogenesis prevents diet-induced fatty liver injury and hyperglycemia.

Authors: David G Cotter; Baris Ercal; Xiaojing Huang; Jamison M Leid; D André d'Avignon; Mark J Graham; Dennis J Dietzen; Elizabeth M Brunt; Gary J Patti; Peter A Crawford
Journal: J Clin Invest Date: 2014-10-27 Impact factor: 14.808

4. Successful adaptation to ketosis by mice with tissue-specific deficiency of ketone body oxidation.

Authors: David G Cotter; Rebecca C Schugar; Anna E Wentz; D André d'Avignon; Peter A Crawford
Journal: Am J Physiol Endocrinol Metab Date: 2012-12-11 Impact factor: 4.310

5. Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features.

Authors: Erin Conboy; Filippo Vairo; Matthew Schultz; Katherine Agre; Ross Ridsdale; David Deyle; Devin Oglesbee; Dimitar Gavrilov; Eric W Klee; Brendan Lanpher
Journal: JIMD Rep Date: 2017-10-14

Fasting hypoketotic coma in a child with deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase.

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

Review 2. Past achievements, current status and future perspectives of studies on 3-hydroxy-3-methylglutaryl-CoA synthase (HMGS) in the mevalonate (MVA) pathway.

3. Ketogenesis prevents diet-induced fatty liver injury and hyperglycemia.

4. Successful adaptation to ketosis by mice with tissue-specific deficiency of ketone body oxidation.

5. Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features.

6. Recurrent loss of HMGCS2 shows that ketogenesis is not essential for the evolution of large mammalian brains.

7. Refining the diagnosis of mitochondrial HMG-CoA synthase deficiency.

Review 8. Multi-dimensional Roles of Ketone Bodies in Fuel Metabolism, Signaling, and Therapeutics.

Review 9. Ketone body metabolism and cardiovascular disease.

Review 10. Hepatic fatty acid trafficking: multiple forks in the road.