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1978 1
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80 results

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Page 1
3-Hydroxy-3-methylglutaryl-CoA-lyase deficiency.
Ploechl E, Bachmann C, Colombo JP, Gibson KM. Ploechl E, et al. J Inherit Metab Dis. 1989;12(3):343. doi: 10.1007/BF01799236. J Inherit Metab Dis. 1989. PMID: 2515385 No abstract available.
The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Pipitone A, Raval DB, Duis J, Vernon H, Martin R, Hamosh A, Valle D, Gunay-Aygun M. Pipitone A, et al. Am J Med Genet A. 2016 Jun;170(6):1600-2. doi: 10.1002/ajmg.a.37620. Epub 2016 Mar 21. Am J Med Genet A. 2016. PMID: 26997609 Free PMC article.
3-hydroxy-3-methylglutaric (HMG)-CoA lyase is required for ketogenesis and leucine degradation. Patients with HMG-CoA lyase deficiency typically present with hypoketotic hypoglycemia and metabolic acidosis, which can be fatal if untreated. ...Stress of …
3-hydroxy-3-methylglutaric (HMG)-CoA lyase is required for ketogenesis and leucine degradation. Patients with HMG-CoA lyase …
[3-hydroxy-3-methylglutaryl-CoA lyase deficiency: a case report and literature review].
Yilmaz O, Kitchen S, Pinto A, Daly A, Gerrard A, Hoban R, Santra S, Sreekantam S, Frost K, Pigott A, MacDonald A. Yilmaz O, et al. Nutr Hosp. 2018 Jan 10;35(1):237-244. doi: 10.20960/nh.1329. Nutr Hosp. 2018. PMID: 29565174 Free article. Spanish.
INTRODUCTION: 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency is an autosomal recessive disorder that usually presents in the neonatal period with vomiting, metabolic acidosis, hypoglycemia and absent ketonuria. ...CASE REPORT: We report a 2 …
INTRODUCTION: 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency is an autosomal recessive disorder that …
Management and long-term evolution of a patient with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.
Muñoz-Bonet JI, Ortega-Sánchez MD, León Guijarro JL. Muñoz-Bonet JI, et al. Ital J Pediatr. 2017 Jan 19;43(1):12. doi: 10.1186/s13052-017-0333-4. Ital J Pediatr. 2017. PMID: 28257639 Free PMC article.
BACKGROUND: 3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency is a rare inborn error of metabolism characterized by recurrent metabolic crises caused by fasting, intercurrent illness and excessive physical exercise. ...CONCLUSIONS: The a …
BACKGROUND: 3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency is a rare inborn error of metabolis …
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency.
Walter JH, Clayton PT, Leonard JV. Walter JH, et al. J Inherit Metab Dis. 1986;9(3):287-8. doi: 10.1007/BF01799665. J Inherit Metab Dis. 1986. PMID: 3099075 No abstract available.
3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy.
Bischof F, Nägele T, Wanders RJ, Trefz FK, Melms A. Bischof F, et al. Ann Neurol. 2004 Nov;56(5):727-30. doi: 10.1002/ana.20280. Ann Neurol. 2004. PMID: 15505778
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency is a disorder of leucine metabolism that usually presents with recurrent episodes of life-threatening hypoglycemia during early childhood. ...
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency is a disorder of leucine metabolism that us …
3-HMG Coenzyme A Lyase Deficiency: Macrocephaly and Left Ventricular Noncompaction with a Novel Mutation.
Köksal T, Gündüz M, Özaydın E, Azak E. Köksal T, et al. Indian J Pediatr. 2015 Jul;82(7):645-8. doi: 10.1007/s12098-015-1722-6. Epub 2015 Feb 25. Indian J Pediatr. 2015. PMID: 25708061
3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency, an inborn error of ketone body synthesis and leucine degradation, is a rare autosomal recessive disease. ...Left ventricular noncompaction is an interesting finding for HMG-CoA …
3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency, an inborn error of ketone body synthesis and l …
Organic acid excretion in a patient with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency: facts and artefacts.
Duran M, Ketting D, Wadman SK, Jakobs C, Schutgens RB, Veder HA. Duran M, et al. Clin Chim Acta. 1978 Dec 1;90(2):187-93. doi: 10.1016/0009-8981(78)90521-1. Clin Chim Acta. 1978. PMID: 719902
The organic acid excretion in a patient with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency is described. In addition to 3-hydroxy-3-methylglutaric, 3-methylglutaconic, 3-methylglutaric and 3-hydroxyisovaleric acids, substantial a …
The organic acid excretion in a patient with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency …
80 results