176 related articles for article (PubMed ID: 6467607)
21. A rapid method for assay of branched-chain keto acid decarboxylation in cultured cells and its application to prenatal diagnosis of maple syrup urine disease.
Fensom AH; Benson PF; Baker JE
Clin Chim Acta; 1978 Jul; 87(1):169-74. PubMed ID: 668138
[TBL] [Abstract][Full Text] [Related]
22. Prenatal diagnosis of propionic acidemia by measuring methylcitric acid in dried amniotic fluid on filter paper using GC/MS.
Inoue Y; Ohse M; Shinka T; Kuhara T
J Chromatogr B Analyt Technol Biomed Life Sci; 2008 Jul; 870(2):160-3. PubMed ID: 18343209
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. 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]
25. Stimulation of lipid peroxidation in vitro in rat brain by the metabolites accumulating in maple syrup urine disease.
Fontella FU; Gassen E; Pulrolnik V; Wannmacher CM; Klein AB; Wajner M; Dutra-Filho CS
Metab Brain Dis; 2002 Mar; 17(1):47-54. PubMed ID: 11894849
[TBL] [Abstract][Full Text] [Related]
26. Prenatal diagnosis of propionic and methylmalonic acidaemia by stable isotope dilution analysis of amniotic fluid.
Holm J; Ponders L; Sweetman L
J Inherit Metab Dis; 1989; 12 Suppl 2():271-3. PubMed ID: 2512423
[No Abstract] [Full Text] [Related]
27. Prenatal therapy of a patient with vitamin-B12-responsive methylmalonic acidemia.
Ampola MG; Mahoney MJ; Nakamura E; Tanaka K
N Engl J Med; 1975 Aug; 293(7):313-7. PubMed ID: 239344
[TBL] [Abstract][Full Text] [Related]
28. [Metabolic disorders of branched-chain amino acids: most common forms of organic aciduria in the neonatal period].
Sperl W; Lehnert W
Klin Padiatr; 1990; 202(5):334-9. PubMed ID: 2214593
[TBL] [Abstract][Full Text] [Related]
29. Accumulation of 3-hydroxyisobutyric acid, 2-methyl-3-hydroxybutyric acid and 3-hydroxyisovaleric acid in ketoacidosis.
Landaas S
Clin Chim Acta; 1975 Oct; 64(2):143-54. PubMed ID: 126826
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. Assessment of an electron-impact GC-MS method for organic acids and glycine conjugates in amniotic fluid.
Kumps A; Vamos E; Mardens Y; Abramowicz M; Genin J; Duez P
J Inherit Metab Dis; 2004; 27(5):567-79. PubMed ID: 15669672
[TBL] [Abstract][Full Text] [Related]
32. Use of proton nuclear magnetic resonance spectroscopy in detection and study of organic acidurias.
Iles RA; Hind AJ; Chalmers RA
Clin Chem; 1985 Nov; 31(11):1795-801. PubMed ID: 2996806
[TBL] [Abstract][Full Text] [Related]
33. Novel HILIC-ESI-MS method for urinary profiling of MSUD and methylmalonic aciduria biomarkers.
Mathew EM; Lewis L; Rao P; Nalini K; Kamath A; Moorkoth S
J Chromatogr Sci; 2019 Aug; 57(8):715-723. PubMed ID: 31251316
[TBL] [Abstract][Full Text] [Related]
34. Studies of urinary organic acid profiles of a patient with dihydrolipoyl dehydrogenase deficiency.
Kuhara T; Shinka T; Inoue Y; Matsumoto M; Yoshino M; Sakaguchi Y; Matsumoto I
Clin Chim Acta; 1983 Sep; 133(2):133-40. PubMed ID: 6688766
[TBL] [Abstract][Full Text] [Related]
35. Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects.
Knerr I; Weinhold N; Vockley J; Gibson KM
J Inherit Metab Dis; 2012 Jan; 35(1):29-40. PubMed ID: 21290185
[TBL] [Abstract][Full Text] [Related]
36. Detection of errors in methylmalonyl-CoA metabolism by using amniotic fluid.
Morrow G; Revsin B; Lebowitz J; Britt W; Giles H
Clin Chem; 1977 May; 23(5):791-5. PubMed ID: 15739
[TBL] [Abstract][Full Text] [Related]
37. Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagnosis of methylmalonic aciduria.
Liu Y; Chen Z; Kang L; He R; Song J; Liu Y; Shi C; Chen J; Dong H; Zhang Y; Ma Y; Wu T; Wang Q; Ding Y; Li X; Li D; Li M; Jin Y; Qin J; Yang Y
PLoS One; 2022; 17(3):e0265766. PubMed ID: 35358224
[TBL] [Abstract][Full Text] [Related]
38. Prenatal diagnosis of organic acidemias based on amniotic fluid levels of acylcarnitines.
Shigematsu Y; Hata I; Nakai A; Kikawa Y; Sudo M; Tanaka Y; Yamaguchi S; Jakobs C
Pediatr Res; 1996 Apr; 39(4 Pt 1):680-4. PubMed ID: 8848345
[TBL] [Abstract][Full Text] [Related]
39. [Mass spectrometry combined with gene analysis for prenatal diagnosis of glutaric acidemia type Ⅰ].
Han F; Han LS; Ji WJ; Chen T; Xu F; Wang Y; Ye J; Qiu WJ; Zhang HW; Jiang YZ; Hou C; Gu XF
Zhonghua Er Ke Za Zhi; 2017 Jul; 55(7):539-543. PubMed ID: 28728265
[No Abstract] [Full Text] [Related]
40. Branched-chain alpha-keto acids isolated as oxime derivatives: relationship to the corresponding hydroxy acids and amino acids in maple syrup urine disease.
Lancaster G; Mamer OA; Scriver CR
Metabolism; 1974 Mar; 23(3):257-65. PubMed ID: 4813956
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]
