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4. GC/MS analysis of urine in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Shinka T; Kuhara T; Inoue Y; Matsumoto M; Matsumoto I; Nakamura H; Irimichi H; Hasumi K; Endo A Acta Paediatr Jpn; 1992 Apr; 34(2):157-65. PubMed ID: 1377861 [TBL] [Abstract][Full Text] [Related]
5. Inherited 3-methylglutaconic aciduria in two brothers--another defect of leucine metabolism. Duran M; Beemer FA; Tibosch AS; Bruinvis L; Ketting D; Wadman SK J Pediatr; 1982 Oct; 101(4):551-4. PubMed ID: 6181239 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
10. Coupled brain and urine spectroscopy - in vivo metabolomic characterization of HMG-CoA lyase deficiency in 5 patients. Roland D; Jissendi-Tchofo P; Briand G; Vamecq J; Fontaine M; Ultré V; Acquaviva-Bourdain C; Mention K; Dobbelaere D Mol Genet Metab; 2017 Jun; 121(2):111-118. PubMed ID: 28396157 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. The contribution of protein catabolism to metabolic decompensation in 3-hydroxy-3-methylglutaric aciduria. Thompson GN; Chalmers RA; Halliday D Eur J Pediatr; 1990 Feb; 149(5):346-50. PubMed ID: 1690129 [TBL] [Abstract][Full Text] [Related]
13. A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency. Santarelli F; Cassanello M; Enea A; Poma F; D'Onofrio V; Guala G; Garrone G; Puccinelli P; Caruso U; Porta F; Spada M Ital J Pediatr; 2013 May; 39():33. PubMed ID: 23705938 [TBL] [Abstract][Full Text] [Related]
14. 3-Hydroxy-3-methylglutaric aciduria: deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase. Wysocki SJ; Hähnel R Clin Chim Acta; 1976 Sep; 71(2):349-51. PubMed ID: 963901 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
18. [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]
19. 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency: postnatal management following prenatal diagnosis by analysis of maternal urine. Duran M; Schutgens RB; Ketel A; Heymans H; Bertssen MW; Ketting D; Wadman SK J Pediatr; 1979 Dec; 95(6):1004-7. PubMed ID: 91680 [No Abstract] [Full Text] [Related]
20. 3-hydroxy-3-methylglutaric aciduria: a new assay of 3-hydroxy-3-methylglutaryl-coa lyase using high performance liquid chromatography. Gibson KM; Sweetman L; Nyhan WL; Page TM; Greene C; Cann HM Clin Chim Acta; 1982 Dec; 126(2):171-81. PubMed ID: 6185253 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]