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2025

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1990 1
1998 2
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Page 1
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations.
Pitt JJ, Peters H, Boneh A, Yaplito-Lee J, Wieser S, Hinderhofer K, Johnson D, Zschocke J. Pitt JJ, et al. J Inherit Metab Dis. 2015 May;38(3):459-66. doi: 10.1007/s10545-014-9801-9. Epub 2014 Dec 16. J Inherit Metab Dis. 2015. PMID: 25511235 Review.
Mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase (HMCS2) deficiency results in episodes of hypoglycemia and increases in fatty acid metabolites. Metabolite abnormalities described to date in HMCS2 deficiency are nonspec …
Mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase (HMCS2) deficiency results in episode …
[Mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase deficiency: a case report and literature review].
Ma D, Yu D. Ma D, et al. Zhongguo Dang Dai Er Ke Za Zhi. 2018 Nov;20(11):930-933. doi: 10.7499/j.issn.1008-8830.2018.11.010. Zhongguo Dang Dai Er Ke Za Zhi. 2018. PMID: 30477625 Free PMC article. Review. Chinese.
Mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase deficiency (HMCSD) is caused by HMGCS2 gene mutation. ...
Mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase deficiency (HMCSD) is caused by HMGCS …
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase: a control enzyme in ketogenesis.
Hegardt FG. Hegardt FG. Biochem J. 1999 Mar 15;338 ( Pt 3)(Pt 3):569-82. Biochem J. 1999. PMID: 10051425 Free PMC article. Review.
Cytosolic and mitochondrial 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthases were first recognized as different chemical entities in 1975, when they were purified and characterized by Lane's group. ...The DNA-binding properties of the p …
Cytosolic and mitochondrial 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) synthases were first recogniz …
Expanding the clinical spectrum of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency with Turkish cases harboring novel HMGCS2 gene mutations and literature review.
Kılıç M, Dorum S, Topak A, Yazıcı MU, Ezgu FS, Coskun T. Kılıç M, et al. Am J Med Genet A. 2020 Jul;182(7):1608-1614. doi: 10.1002/ajmg.a.61590. Epub 2020 Apr 7. Am J Med Genet A. 2020. PMID: 32259399 Review.
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (mHS) deficiency is a very rare autosomal recessive inborn error of ketone body synthesis and presents with hypoketotic hypoglycemia, metabolic acidosis, lethargy, encephalopath …
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase (mHS) deficiency is a very rare autos …
Ketone body metabolism and its defects.
Fukao T, Mitchell G, Sass JO, Hori T, Orii K, Aoyama Y. Fukao T, et al. J Inherit Metab Dis. 2014 Jul;37(4):541-51. doi: 10.1007/s10545-014-9704-9. Epub 2014 Apr 8. J Inherit Metab Dis. 2014. PMID: 24706027 Review.
Defects in ketogenesis include mitochondrial HMG-CoA synthase (mHS) deficiency and HMG-CoA lyase (HL) deficiency. mHS deficiency should be considered in non-ketotic hypoglycemia if a fatty acid beta-oxidation defect is suspected, but cannot be confirme …
Defects in ketogenesis include mitochondrial HMG-CoA synthase (mHS) deficiency and HMG-CoA lyase (HL) deficiency. mHS …
Potential Alteration of Statin-Related Pharmacological Features in Diabetes Mellitus.
Mashayekhi-Sardoo H, Atkin SL, Montecucco F, Sahebkar A. Mashayekhi-Sardoo H, et al. Biomed Res Int. 2021 Mar 26;2021:6698743. doi: 10.1155/2021/6698743. eCollection 2021. Biomed Res Int. 2021. PMID: 33834073 Free PMC article. Review.
OBJECTIVE: Type 2 diabetes mellitus is a chronic metabolic disease caused by insulin resistance or insulin deficiency resulting in elevated blood glucose levels. Poorly controlled diabetes is associated with the development of cardiovascular disease and dyslipidemia. 3
OBJECTIVE: Type 2 diabetes mellitus is a chronic metabolic disease caused by insulin resistance or insulin deficiency resulting in el …
Clinical and biochemical features of fatty acid oxidation disorders.
Rinaldo P, Raymond K, al-Odaib A, Bennett MJ. Rinaldo P, et al. Curr Opin Pediatr. 1998 Dec;10(6):615-21. doi: 10.1097/00008480-199810060-00014. Curr Opin Pediatr. 1998. PMID: 9848022 Review.
This review includes a clinical and biochemical summary of the FAO disorders known to date, a synopsis of four recently discovered defects (short-chain 3-hydroxy acyl-CoA [coenzyme A] dehydrogenase deficiency, medium-chain 3-ketoacyl-CoA thiolase deficiency, 3
This review includes a clinical and biochemical summary of the FAO disorders known to date, a synopsis of four recently discovered defects ( …
Repositioning of Tak-475 In Mevalonate Kinase Disease: Translating Theory Into Practice.
Marcuzzi A, Loganes C, Celeghini C, Kleiner G. Marcuzzi A, et al. Curr Med Chem. 2018;25(24):2783-2796. doi: 10.2174/0929867324666170911161417. Curr Med Chem. 2018. PMID: 28901277 Review.
BACKGROUND: Mevalonate Kinase Deficiency (MKD, OMIM #610377) is a rare autosomal recessive metabolic and inflammatory disease. ...Of note, these cells present an exaggerated response to inflammatory stimuli that can be reduced by treatment with zaragozic acid, an inhibitor …
BACKGROUND: Mevalonate Kinase Deficiency (MKD, OMIM #610377) is a rare autosomal recessive metabolic and inflammatory disease. ...Of …
Inborn errors of ketogenesis.
Mitchell GA, Wang SP, Ashmarina L, Robert MF, Bouchard G, Laurin N, Kassovska-Bratinova S, Boukaftane Y. Mitchell GA, et al. Biochem Soc Trans. 1998 May;26(2):136-40. doi: 10.1042/bst0260136. Biochem Soc Trans. 1998. PMID: 9649735 Review. No abstract available.
[Sudden death of a patient with 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency].
Vilaseca Busca MA, Ribes Rubio A, Briones Godino P, Cusi Sánchez V, Baraíbar Castelló R, Gairi Taull JM. Vilaseca Busca MA, et al. An Esp Pediatr. 1990 Feb;32(2):149-53. An Esp Pediatr. 1990. PMID: 1971743 Review. Spanish.
A new case of neonatal 3-hydroxy-3-methylglutaric aciduria is described. 3-hydroxy-3-methylglutaryl CoA lyase activities in leukocytes demonstrated the patient's homozygosity and the heterozygous character of the parents and two other members of …
A new case of neonatal 3-hydroxy-3-methylglutaric aciduria is described. 3-hydroxy-3-methylglutaryl CoA l …
12 results