These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
5. 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]
8. Clinical, biochemical, mitochondrial, and metabolomic aspects of methylmalonate semialdehyde dehydrogenase deficiency: Report of a fifth case. Dobrowolski SF; Alodaib A; Karunanidhi A; Basu S; Holecko M; Lichter-Konecki U; Pappan KL; Vockley J Mol Genet Metab; 2020 Apr; 129(4):272-277. PubMed ID: 32151545 [TBL] [Abstract][Full Text] [Related]
9. Purification and characterization of methylmalonate-semialdehyde dehydrogenase from rat liver. Identity to malonate-semialdehyde dehydrogenase. Goodwin GW; Rougraff PM; Davis EJ; Harris RA J Biol Chem; 1989 Sep; 264(25):14965-71. PubMed ID: 2768248 [TBL] [Abstract][Full Text] [Related]
10. Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria). Gibson KM; Sweetman L; Kozich V; Pijackova A; Tscharre A; Cortez A; Eyskens F; Jakobs C; Duran M; Poll-The BT J Inherit Metab Dis; 1998 Jun; 21(3):255-61. PubMed ID: 9686370 [No Abstract] [Full Text] [Related]
11. Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway. Wanders RJ; Duran M; Loupatty FJ J Inherit Metab Dis; 2012 Jan; 35(1):5-12. PubMed ID: 21104317 [TBL] [Abstract][Full Text] [Related]
12. Coordinated expression of valine catabolic enzymes during adipogenesis: analysis of activity, mRNA, protein levels, and metabolic consequences. Kedishvili NY; Popov KM; Jaskiewicz JA; Harris RA Arch Biochem Biophys; 1994 Dec; 315(2):317-22. PubMed ID: 7527207 [TBL] [Abstract][Full Text] [Related]