149 related articles for article (PubMed ID: 2246856)
1. Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency.
Bennett MJ; Coates PM; Hale DE; Millington DS; Pollitt RJ; Rinaldo P; Roe CR; Tanaka K
J Inherit Metab Dis; 1990; 13(5):707-15. PubMed ID: 2246856
[TBL] [Abstract][Full Text] [Related]
2. Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine.
Rinaldo P; O'Shea JJ; Coates PM; Hale DE; Stanley CA; Tanaka K
N Engl J Med; 1988 Nov; 319(20):1308-13. PubMed ID: 3054550
[TBL] [Abstract][Full Text] [Related]
3. Abnormal urinary excretion of unsaturated dicarboxylic acids in patients with medium-chain acyl-CoA dehydrogenase deficiency.
Tserng KY; Jin SJ; Kerr DS; Hoppel CL
J Lipid Res; 1990 May; 31(5):763-71. PubMed ID: 2380628
[TBL] [Abstract][Full Text] [Related]
4. Diagnostic and therapeutic implications of medium-chain acylcarnitines in the medium-chain acyl-coA dehydrogenase deficiency.
Roe CR; Millington DS; Maltby DA; Bohan TP; Kahler SG; Chalmers RA
Pediatr Res; 1985 May; 19(5):459-66. PubMed ID: 4000772
[TBL] [Abstract][Full Text] [Related]
5. Stable isotope dilution analysis of n-hexanoylglycine, 3-phenylpropionylglycine and suberylglycine in human urine using chemical ionization gas chromatography/mass spectrometry selected ion monitoring.
Rinaldo P; O'Shea JJ; Welch RD; Tanaka K
Biomed Environ Mass Spectrom; 1989 Jul; 18(7):471-7. PubMed ID: 2775902
[TBL] [Abstract][Full Text] [Related]
6. Gas chromatography--mass spectrometry (GC--MS) diagnosis of two cases of medium chain acyl-CoA dehydrogenase deficiency.
Divry P; Vianey-Liaud C; Cotte J
J Inherit Metab Dis; 1984; 7 Suppl 1():44-7. PubMed ID: 6434844
[TBL] [Abstract][Full Text] [Related]
7. Population screening for medium-chain acyl-CoA dehydrogenase deficiency: analysis of medium-chain fatty acids and acylglycines in blood spots.
Bennett MJ; Ragni MC; Ostfeld RJ; Santer R; Schmidt-Sommerfeld E
Ann Clin Biochem; 1994 Jan; 31 ( Pt 1)():72-7. PubMed ID: 8154855
[TBL] [Abstract][Full Text] [Related]
8. Urinary medium-chain acylcarnitines in medium-chain acyl-CoA dehydrogenase deficiency, medium-chain triglyceride feeding and valproic acid therapy: sensitivity and specificity of the radioisotopic exchange/high performance liquid chromatography method.
Schmidt-Sommerfeld E; Penn D; Rinaldo P; Kossak D; Li BU; Huang ZH; Gage DA
Pediatr Res; 1992 Jun; 31(6):545-51. PubMed ID: 1635814
[TBL] [Abstract][Full Text] [Related]
9. Diagnosis of medium chain acyl-CoA dehydrogenase deficiency by stable isotope dilution analysis of urinary acylglycines: retrospective and prospective studies, and comparison of its accuracy to acylcarnitine identification by FAB/mass spectrometry.
Rinaldo P; O'Shea JJ; Welch RD; Tanaka K
Prog Clin Biol Res; 1990; 321():411-8. PubMed ID: 2326302
[TBL] [Abstract][Full Text] [Related]
10. Novel glycine conjugates in medium-chain acyl-CoA dehydrogenase deficiency.
Pitt JJ
J Inherit Metab Dis; 1993; 16(2):392-8. PubMed ID: 8411999
[TBL] [Abstract][Full Text] [Related]
11. Comparison of urinary acylglycines and acylcarnitines as diagnostic markers of medium-chain acyl-CoA dehydrogenase deficiency.
Rinaldo P; O'Shea JJ; Goodman SI; Miller LV; Fennessey PV; Whelan DT; Hill RE; Tanaka K
J Inherit Metab Dis; 1989; 12 Suppl 2():325-8. PubMed ID: 2512435
[No Abstract] [Full Text] [Related]
12. Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine.
Chalmers RA; Roe CR; Stacey TE; Hoppel CL
Pediatr Res; 1984 Dec; 18(12):1325-8. PubMed ID: 6441143
[TBL] [Abstract][Full Text] [Related]
13. Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency.
Albers S; Levy HL; Irons M; Strauss AW; Marsden D
J Inherit Metab Dis; 2001 Jun; 24(3):417-8. PubMed ID: 11486912
[No Abstract] [Full Text] [Related]
14. When do gut flora in the newborn produce 3-phenylpropionic acid? Implications for early diagnosis of medium-chain acyl-CoA dehydrogenase deficiency.
Bennett MJ; Bhala A; Poirier SF; Ragni MC; Willi SM; Hale DE
Clin Chem; 1992 Feb; 38(2):278-81. PubMed ID: 1541011
[TBL] [Abstract][Full Text] [Related]
15. Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry.
Clayton PT; Doig M; Ghafari S; Meaney C; Taylor C; Leonard JV; Morris M; Johnson AW
Arch Dis Child; 1998 Aug; 79(2):109-15. PubMed ID: 9797589
[TBL] [Abstract][Full Text] [Related]
16. General (medium-chain) acyl-CoA dehydrogenase deficiency (non-ketotic dicarboxylic aciduria): quantitative urinary excretion pattern of 23 biologically significant organic acids in three cases.
Gregersen N; Kølvraa S; Rasmussen K; Mortensen PB; Divry P; David M; Hobolth N
Clin Chim Acta; 1983 Aug; 132(2):181-91. PubMed ID: 6616873
[TBL] [Abstract][Full Text] [Related]
17. The differential diagnosis of dicarboxylic aciduria.
Duran M; De Klerk JB; Wadman SK; Bruinvis L; Ketting D
J Inherit Metab Dis; 1984; 7 Suppl 1():48-51. PubMed ID: 6434845
[TBL] [Abstract][Full Text] [Related]
18. Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry.
Chace DH; Hillman SL; Van Hove JL; Naylor EW
Clin Chem; 1997 Nov; 43(11):2106-13. PubMed ID: 9365395
[TBL] [Abstract][Full Text] [Related]
19. Octanoylglucuronide excretion in patients with a defective oxidation of medium-chain fatty acids.
Duran M; Ketting D; van Vossen R; Beckeringh TE; Dorland L; Bruinvis L; Wadman SK
Clin Chim Acta; 1985 Nov; 152(3):253-60. PubMed ID: 4064333
[TBL] [Abstract][Full Text] [Related]
20. Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele.
Gregersen N; Winter V; Lyonnet S; Saudubray JM; Wendel U; Jensen TG; Andresen BS; Kølvraa S; Lehnert W; Bolund L
J Inherit Metab Dis; 1994; 17(2):169-84. PubMed ID: 7967471
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
