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4. 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]
5. 3-Hydroxy-3-methylglutaric aciduria: 3-hydroxy-3-methylglutaryl-coenzyme A lyase levels in leucocytes. Wysocki SJ; Hähnel R Clin Chim Acta; 1976 Dec; 73(2):373-5. PubMed ID: 1000856 [No Abstract] [Full Text] [Related]
6. 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]
7. 3-Hydroxy-3-methylglutaric aciduria: response to carnitine therapy and fat and leucine restriction. Dasouki M; Buchanan D; Mercer N; Gibson KM; Thoene J J Inherit Metab Dis; 1987; 10(2):142-6. PubMed ID: 2443756 [TBL] [Abstract][Full Text] [Related]
9. Gas-chromatographic/mass spectrometric detection of 3-hydroxy-3-methylglutaryl-CoA lyase deficiency in double first cousins. Norman EJ; Denton MD; Berry HK Clin Chem; 1982 Jan; 28(1):137-40. PubMed ID: 7055897 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Prenatal diagnosis of 3-hydroxy-3-methylglutaric aciduria via enzyme activity measurements in chorionic villi, chorionic villous fibroblasts or amniocytes using a simple spectrophotometric method. Wanders RJ; Schutgens RB; Zoeters BH J Inherit Metab Dis; 1988; 11(4):430. PubMed ID: 2468820 [No Abstract] [Full Text] [Related]
13. Prenatal diagnosis of 3-hydroxy-3-methylglutaric aciduria by GC-MS and enzymology on cultured amniocytes and chorionic villi. Chalmers RA; Tracey BM; Mistry J; Stacey TE; McFadyen IR J Inherit Metab Dis; 1989; 12(3):286-92. PubMed ID: 2482386 [TBL] [Abstract][Full Text] [Related]
14. 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]