133 related articles for article (PubMed ID: 4557757)
21. A combined defect of three mitochondrial carboxylases presenting as biotin-responsive 3-methylcrotonyl glycinuria and 3-hydroxyisovaleric aciduria.
Bartlett K; Ng H; Leonard JV
Clin Chim Acta; 1980 Jan; 100(2):183-6. PubMed ID: 6766095
[TBL] [Abstract][Full Text] [Related]
22. [Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children].
Xie LJ; Zhu JX; Zhu XD; Li HJ; Han LS; Gu XF
Zhongguo Dang Dai Er Ke Za Zhi; 2008 Feb; 10(1):31-4. PubMed ID: 18289467
[TBL] [Abstract][Full Text] [Related]
23. The urinary organic acid profile associated with 3-hydroxy-3-methylglutaric aciduria.
Faull KF; Bolton PD; Halpern B; Hammond J; Danks DM
Clin Chim Acta; 1976 Dec; 73(3):553-9. PubMed ID: 1000872
[No Abstract] [Full Text] [Related]
24. 2-Ethylhydracrylic acid: a newly described urinary organic acid.
Mamer OA; Tjoa SS
Clin Chim Acta; 1974 Sep; 55(2):199-204. PubMed ID: 4458986
[No Abstract] [Full Text] [Related]
25. Beta-hydroxyisovaleric aciduria and beta-methylcrotonylglycinuria: a new inborn error of metabolism.
Eldjarn L; Jellum E; Stokke O; Pande H; Waaler PE
Lancet; 1970 Sep; 2(7671):521-2. PubMed ID: 4194964
[No Abstract] [Full Text] [Related]
26. Isolation and identification of methylcitrate, a major metabolic product of propionate in patients with propionic acidemia.
Ando T; Rasmussen K; Wright JM; Nyhan WL
J Biol Chem; 1972 Apr; 247(7):2200-4. PubMed ID: 5016650
[No Abstract] [Full Text] [Related]
27. Organic aciduria. Treatable cause of floppy infant syndrome.
Keeton BR
Arch Dis Child; 1976 Aug; 51(8):636-8. PubMed ID: 962376
[TBL] [Abstract][Full Text] [Related]
28. [Mass spectrometry in clinical chemistry].
Pettersen JE
Tidsskr Nor Laegeforen; 1977 Oct; 97(29):1508-10, 1513. PubMed ID: 918922
[No Abstract] [Full Text] [Related]
29. Analysis of organic acids and acylglycines for the diagnosis of related inborn errors of metabolism by GC- and HPLC-MS.
la Marca G; Rizzo C
Methods Mol Biol; 2011; 708():73-98. PubMed ID: 21207284
[TBL] [Abstract][Full Text] [Related]
30. Tiglicaciduria in propionicacidaemia.
Nyhan WL; Ando T; Rasmussen K; Wadlington W; Kilroy AW; Cottom D; Hull D
Biochem J; 1972 Feb; 126(4):1035-7. PubMed ID: 5073234
[TBL] [Abstract][Full Text] [Related]
31. Enantioselective multidimensional gas chromatography-mass spectrometry in the analysis of urinary organic acids.
Heil M; Podebrad F; Beck T; Mosandl A; Sewell AC; Böhles H
J Chromatogr B Biomed Sci Appl; 1998 Sep; 714(2):119-26. PubMed ID: 9766851
[TBL] [Abstract][Full Text] [Related]
32. An approach to the diagnosis of overwhelming metabolic disease in early infancy.
Nyhan WL
Curr Probl Pediatr; 1977 Apr; ():1-20. PubMed ID: 856539
[TBL] [Abstract][Full Text] [Related]
33. New metabolites in isovaleric acidemia.
Truscott RJ; Malegan D; McCairns E; Burke D; Hick L; Sims P; Halpern B; Tanaka K; Sweetman L; Nyhan WL; Hammond J; Bumack C; Haan EA; Danks DM
Clin Chim Acta; 1981 Mar; 110(2-3):187-203. PubMed ID: 6452974
[TBL] [Abstract][Full Text] [Related]
34. [Gas chromatography of organic acids: methodological and diagnostic aspects].
Bykov IL
Klin Lab Diagn; 1998 Jan; (1):15-9. PubMed ID: 9532892
[TBL] [Abstract][Full Text] [Related]
35. Methylmalonic/beta-hydroxy-n-valeric aciduria due to methylmalonyl-CoA mutase deficiency.
Goodman SI; McCabe ER; Fennessey PV; Miles BS; Mace JW; Jellum E
Clin Chim Acta; 1978 Aug; 87(3):441-9. PubMed ID: 28187
[TBL] [Abstract][Full Text] [Related]
36. The scope of mass spectrometry in clinical chemistry.
Lawson AM
Clin Chem; 1975 Jun; 21(7):803-24. PubMed ID: 1132130
[TBL] [Abstract][Full Text] [Related]
37. Screening for metabolic disorders associated with mental retardation.
Hill A; Zaleski WA
Clin Biochem; 1972 Mar; 5(1):33-45. PubMed ID: 5022447
[No Abstract] [Full Text] [Related]
38. Detection of metabolic disorders. Chromatographic procedures and interpretation of results.
Berry HK; Leonard C; Peters H; Granger M; Chunekamrai N
Clin Chem; 1968 Nov; 14(11):1033-65. PubMed ID: 4972564
[No Abstract] [Full Text] [Related]
39. [Mass spectrometry and inherited metabolic diseases diagnosis].
Briand G; Lemaire-Ewing S; Parente F; Garnotel R
Ann Biol Clin (Paris); 2015; 73(1):93-106. PubMed ID: 25582726
[TBL] [Abstract][Full Text] [Related]
40. Partial methylcrotonyl-coenzyme A carboxylase deficiency in an infant with failure to thrive, gastrointestinal dysfunction, and hypertonia.
Tuchman M; Berry SA; Thuy LP; Nyhan WL
Pediatrics; 1993 Mar; 91(3):664-6. PubMed ID: 8441580
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]