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4. An inherited disorder of isoleucine catabolism causing accumulation of alpha-methylacetoacetate and alpha-methyl-beta -hydroxybutyrate, and intermittent metabolic acidosis. Daum RS; Scriver CR; Mamer OA; Delvin E; Lamm P; Goldman H Pediatr Res; 1973 Mar; 7(3):149-60. PubMed ID: 4690360 [No Abstract] [Full Text] [Related]
5. The occurrence of 2-hydroxyisovaleric acid in patients with lactic acidosis and ketoacidosis. Landaas S; Jakobs C Clin Chim Acta; 1977 Aug; 78(3):489-93. PubMed ID: 884872 [TBL] [Abstract][Full Text] [Related]
6. The identification of 3-keto-2-methylvaleric acid and 3-hydroxy-2-methylvaleric acid in a patient with propionic acidemia. Truscott RJ; Pullin CJ; Halpern B; Hammond J; Haan E; Danks DM Biomed Mass Spectrom; 1979 Jul; 6(7):294-300. PubMed ID: 486715 [TBL] [Abstract][Full Text] [Related]
7. Adsorption of small hydroxy acids on glass: a pitfall in quantitative urinary organic acid analysis by GC-MS. van Landeghem AA; Somers-Pijnenburg YT; Somers WJ; Stokwielder C; de Bruyn W; van den Berg GB J Inherit Metab Dis; 1999 May; 22(3):293-6. PubMed ID: 10384390 [No Abstract] [Full Text] [Related]
8. Demonstration of a new mammalian isoleucine catabolic pathway yielding an Rseries of metabolites. Mamer OA; Tjoa SS; Scriver CR; Klassen GA Biochem J; 1976 Dec; 160(3):417-26. PubMed ID: 1016232 [TBL] [Abstract][Full Text] [Related]
10. Beta-ketothiolase deficiency as a cause of the "ketotic hyperglycinemia syndrome". Hillman RE; Keating JP Pediatrics; 1974 Feb; 53(2):221-5. PubMed ID: 4812006 [No Abstract] [Full Text] [Related]
11. A defect in l-isoleucine metabolism associated with alpha-methyl-beta-hydroxybutyric and alpha-methylacetoacetic aciduria: quantitative in vivo and in vitro studies. Gompertz D; Saudubray JM; Charpentier C; Bartlett K; Goodey PA; Draffan GH Clin Chim Acta; 1974 Dec; 57(3):269-81. PubMed ID: 4434646 [No Abstract] [Full Text] [Related]
12. The identification of tiglylglycine in the urine of a child with -methylcrotonylglycinuria. Gompertz D; Draffan GH Clin Chim Acta; 1972 Mar; 37():405-10. PubMed ID: 5022104 [No Abstract] [Full Text] [Related]
13. [2-Methyl-3-oxovaleric acid: a characteristic metabolite in propionic acidemia]. Lehnert W; Junker A Clin Chim Acta; 1980 May; 104(1):47-51. PubMed ID: 7389125 [TBL] [Abstract][Full Text] [Related]
14. 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]
16. The identification of (E)-2-methylglutaconic acid, a new isoleucine metabolite, in the urine of patients with beta-ketothiolase deficiency, propionic acidaemia and methylmalonic acidaemia. Duran M; Bruinvis L; Ketting D; Kamerling JP; Wadman SK; Schutgens RB Biomed Mass Spectrom; 1982 Jan; 9(1):1-5. PubMed ID: 7059658 [TBL] [Abstract][Full Text] [Related]
17. Deranged isoleucine metabolism during ketotic attacks in patients with methylmalonic acidaemia. Duran M; Bruinvis L; Ketting D; Wadman SK J Inherit Metab Dis; 1978; 1(3):105-7. PubMed ID: 116077 [TBL] [Abstract][Full Text] [Related]
18. Excessive excretion of beta-alanine and of 3-hydroxypropionic, R- and S-3-aminoisobutyric, R- and S-3-hydroxyisobutyric and S-2-(hydroxymethyl)butyric acids probably due to a defect in the metabolism of the corresponding malonic semialdehydes. Pollitt RJ; Green A; Smith R J Inherit Metab Dis; 1985; 8(2):75-9. PubMed ID: 3939535 [TBL] [Abstract][Full Text] [Related]
19. Propionyl-CoA carboxylase deficiency: case report, effect of low-protein diet and identification of 3-oxo-2-methylvaleric acid 3-hydroxy-2-methylvaleric acid, and maleic acid in urine. Bergstrøm T; Greter J; Levin AH; Steen G; Tryding N; Wass U Scand J Clin Lab Invest; 1981 Apr; 41(2):117-26. PubMed ID: 7313494 [TBL] [Abstract][Full Text] [Related]
20. Abnormal metabolites of isoleucine in a patient with propionyl-CoA carboxylase deficiency. Sweetman L; Weyler W; Nyhan WL; de Céspedes C; Loria AR; Estrada Y Biomed Mass Spectrom; 1978 Mar; 5(3):198-207. PubMed ID: 630060 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]