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27. Methylmalonic aciduria and propionic acidaemia studied by proton nuclear magnetic resonance spectroscopy. Iles RA; Chalmers RA; Hind AJ Clin Chim Acta; 1986 Dec; 161(2):173-89. PubMed ID: 3802528 [TBL] [Abstract][Full Text] [Related]
28. 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]
29. Gas chromatography method for the separation of amino acids enantiomers in plasma and urine. Application in a case of short bowel syndrome. Ketting D; Wadman SK; Spaapen LJ; Van der Meer SB; Duran M Clin Chim Acta; 1991 Dec; 204(1-3):79-86. PubMed ID: 1819475 [TBL] [Abstract][Full Text] [Related]
30. 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]
31. Excretion pattern of branched-chain amino acid metabolites during the course of acute infections in a patient with methylmalonic acidaemia. Kølvraa S; Gregersen N; Christensen E; Rasmussen K J Inherit Metab Dis; 1980; 3(3):63-6. PubMed ID: 6775138 [TBL] [Abstract][Full Text] [Related]
32. Increased excretion of lactate, glutarate, 3-hydroxyisovalerate and 3-methylglutaconate during clinical episodes of propionic acidemia. Kuhara T; Shinka T; Matsuo M; Matsumoto I Clin Chim Acta; 1982 Aug; 123(1-2):101-9. PubMed ID: 7116632 [TBL] [Abstract][Full Text] [Related]
33. New insights in dihydropyrimidine dehydrogenase deficiency: a pivotal role for beta-aminoisobutyric acid? Van Kuilenburg AB; Stroomer AE; Van Lenthe H; Abeling NG; Van Gennip AH Biochem J; 2004 Apr; 379(Pt 1):119-24. PubMed ID: 14705962 [TBL] [Abstract][Full Text] [Related]
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36. Succinic semialdehyde dehydrogenase deficiency associated with combined 4-hydroxybutyric and dicarboxylic acidurias: potential for clinical misdiagnosis based on urinary organic acid profiling. Gibson KM; Goodman SI; Frerman FE; Glasgow AM J Pediatr; 1989 Apr; 114(4 Pt 1):607-10. PubMed ID: 2926573 [No Abstract] [Full Text] [Related]
37. 3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC-MS/MS method. Sasarman F; Ferdinandusse S; Sinasac DS; Fung E; Sparkes R; Reeves M; Rombough C; Sass JO; Voit R; Ruiter JPN; Koster J; Waterham HR; Pasquini E; Donati MA; Marquardt T; Wanders RJA; Al-Hertani W J Inherit Metab Dis; 2022 May; 45(3):445-455. PubMed ID: 35174513 [TBL] [Abstract][Full Text] [Related]
38. Dietary treatment and biochemical studies on a neonatal case of propionyl-CoA carboxylase deficiency. DelValle JA; Merinero B; Jiménez A; García MJ; Ugarte M; Omeñaca F; Neustadt G; Quero J J Inherit Metab Dis; 1982; 5(2):121-4. PubMed ID: 6820422 [TBL] [Abstract][Full Text] [Related]
39. Increased urinary excretion of 3-hydroxyisovaleric acid in patients with ketoacidosis. Landaas S Clin Chim Acta; 1974 Jul; 54(1):39-46. PubMed ID: 4847122 [No Abstract] [Full Text] [Related]
40. Increased excretion of propan-1,3-diol and 3-hydroxypropionic acid apparently caused by abnormal bacterial metabolism in the gut. Pollitt RJ; Fowler B; Sardharwalla IB; Edwards MA; Gray RG Clin Chim Acta; 1987 Nov; 169(2-3):151-7. PubMed ID: 3427776 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]