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4. Evaluation of 3-hydroxy-3-methylglutaryl-coenzyme A lyase arginine-41 as a catalytic residue: use of acetyldithio-coenzyme A to monitor product enolization. Tuinstra RL; Wang CZ; Mitchell GA; Miziorko HM Biochemistry; 2004 May; 43(18):5287-95. PubMed ID: 15122894 [TBL] [Abstract][Full Text] [Related]
5. Rapid diagnosis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency via enzyme activity measurements in leukocytes or platelets using a simple spectrophotometric method. Wanders RJ; Zoeters PH; Schutgens RB; de Klerk JB; Duran M; Wadman SK; van Sprang FJ; Hemmes AM; Voorbrood BS Clin Chim Acta; 1990 Aug; 189(3):327-34. PubMed ID: 2225463 [TBL] [Abstract][Full Text] [Related]
6. 3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: a coupled enzyme assay useful for their detection. Narisawa K; Gibson KM; Sweetman L; Nyhan WL Clin Chim Acta; 1989 Sep; 184(1):57-64. PubMed ID: 2480857 [TBL] [Abstract][Full Text] [Related]
7. Identification of 3-methylglutarylcarnitine. A new diagnostic metabolite of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. Roe CR; Millington DS; Maltby DA J Clin Invest; 1986 Apr; 77(4):1391-4. PubMed ID: 3958190 [TBL] [Abstract][Full Text] [Related]
8. [3-Hydroxy-3-methyl-glutaryl-CoA-lyase deficiency as coma etiology in the neonatal period: case report]. Casella EB; Martins FR; Miura IK; Vieira MA; Porta G Arq Neuropsiquiatr; 1998 Sep; 56(3A):472-5. PubMed ID: 9754431 [TBL] [Abstract][Full Text] [Related]
10. Studies on a child suspected of having a dficiency in 3-hydroxy-3-methylglutaryl-Co A lyase. Truscott RJ; Halpern B; Wysocki SJ; Hähnel R; Wilcken B Clin Chim Acta; 1979 Jul; 95(1):11-16. PubMed ID: 509721 [TBL] [Abstract][Full Text] [Related]
11. 3-methyl-3-butenoic acid: an artefact in the urinary metabolic pattern of patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Jakobs C; Bojasch M; Duran M; Ketting D; Wadman SK; Leupold D Clin Chim Acta; 1980 Sep; 106(1):85-9. PubMed ID: 6157502 [No Abstract] [Full Text] [Related]
12. Biosynthesis and characterization of (S)-and (R)-3-hydroxy-3-methylglutaryl coenzyme A. Bischoff KM; Rodwell VW Biochem Med Metab Biol; 1992 Oct; 48(2):149-58. PubMed ID: 1419147 [TBL] [Abstract][Full Text] [Related]
13. 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 Clin Chim Acta; 1978 Dec; 90(2):187-93. PubMed ID: 719902 [TBL] [Abstract][Full Text] [Related]
14. [3-hydroxy-3-methylglutaraciduria (case report of a female Turkish sisters with 3-hydroxy-3- methylglutaryl-Coenzyme A lyase deficiency]. Koling S; Kalhoff H; Schauerte P; Lehnert W; Diekmann L Klin Padiatr; 2000; 212(3):113-6. PubMed ID: 10916782 [TBL] [Abstract][Full Text] [Related]
15. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: initial presentation in a young adult. Reimão S; Morgado C; Almeida IT; Silva M; Corte Real H; Campos J J Inherit Metab Dis; 2009 Dec; 32 Suppl 1():S49-52. PubMed ID: 19242819 [TBL] [Abstract][Full Text] [Related]
16. 3-Hydroxy-3-methylglutaryl-CoA lyase in human skin fibroblasts: study of its properties and deficient activity in 3-hydroxy-3-methylglutaric aciduria patients using a simple spectrophotometric method. Wanders RJ; Schutgens RB; Zoeters PH Clin Chim Acta; 1988 Jan; 171(1):95-101. PubMed ID: 2450702 [TBL] [Abstract][Full Text] [Related]
17. 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency as detected by radiochemical assay in cell extracts by thin-layer chromatography, and identification of three new cases. Gibson KM; Lee CF; Kamali V; Johnston K; Beaudet AL; Craigen WJ; Powell BR; Schwartz R; Tsai MY; Tuchman M Clin Chem; 1990 Feb; 36(2):297-303. PubMed ID: 2302772 [TBL] [Abstract][Full Text] [Related]
18. Genetic complementation analysis of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency in cultured fibroblasts. Sovik O; Sweetman L; Gibson KM; Nyhan WL Am J Hum Genet; 1984 Jul; 36(4):791-801. PubMed ID: 6475954 [TBL] [Abstract][Full Text] [Related]
19. Clinical and biochemical observations on a child with a deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase. Ketel A; Ket JL; Schutgens RB; Duran M; Wadman SK J Inherit Metab Dis; 1980; 3(3):89-90. PubMed ID: 6158624 [No Abstract] [Full Text] [Related]
20. Modeling of a mutation responsible for human 3-hydroxy-3-methylglutaryl-CoA lyase deficiency implicates histidine 233 as an active site residue. Roberts JR; Mitchell GA; Miziorko HM J Biol Chem; 1996 Oct; 271(40):24604-9. PubMed ID: 8798725 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]