130 related articles for article (PubMed ID: 10755375)
1. Enantioselective analysis of ketone bodies in patients with beta-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting.
Heil M; Podebrad F; Prado E; Beck T; Mosand A; Sewell AC; Böhles H; Lehnert W
J Chromatogr B Biomed Sci Appl; 2000 Mar; 739(2):313-24. PubMed ID: 10755375
[TBL] [Abstract][Full Text] [Related]
2. Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.
Grünert SC; Schmitt RN; Schlatter SM; Gemperle-Britschgi C; Balcı MC; Berg V; Çoker M; Das AM; Demirkol M; Derks TGJ; Gökçay G; Uçar SK; Konstantopoulou V; Christoph Korenke G; Lotz-Havla AS; Schlune A; Staufner C; Tran C; Visser G; Schwab KO; Fukao T; Sass JO
Mol Genet Metab; 2017 Sep; 122(1-2):67-75. PubMed ID: 28689740
[TBL] [Abstract][Full Text] [Related]
3. beta-Ketothiolase (2-methylacetoacetyl-coenzyme A thiolase) deficiency: identification of two patients in Israel.
Gibson KM; Elpeleg ON; Bennett MJ
J Inherit Metab Dis; 1996; 19(5):698-9. PubMed ID: 8892029
[No Abstract] [Full Text] [Related]
4. Fasting medium chain acyl-coenzyme A dehydrogenase--deficient children can make ketones.
Fletcher JM; Pitt JJ
Metabolism; 2001 Feb; 50(2):161-5. PubMed ID: 11229423
[TBL] [Abstract][Full Text] [Related]
5. Stereodifferentiation of 3-hydroxyisobutyric- and 3-aminoisobutyric acid in human urine by enantioselective multidimensional capillary gas chromatography-mass spectrometry.
Podebrad F; Heil M; Beck T; Mosandl A; Sewell AC; Böhles H
Clin Chim Acta; 2000 Feb; 292(1-2):93-105. PubMed ID: 10686279
[TBL] [Abstract][Full Text] [Related]
6. Beta-ketothiolase deficiency. A case report.
Altintaş B; Teziç T; Coşkun T; Ozalp I; Kükner S; Kaya A
Turk J Pediatr; 1992; 34(1):43-6. PubMed ID: 1509529
[TBL] [Abstract][Full Text] [Related]
7. Quantitative analysis of urinary acylglycines for the diagnosis of beta-oxidation defects using GC-NCI-MS.
Costa CG; Guérand WS; Struys EA; Holwerda U; ten Brink HJ; Tavares de Almeida I; Duran M; Jakobs C
J Pharm Biomed Anal; 2000 Jan; 21(6):1215-24. PubMed ID: 10708405
[TBL] [Abstract][Full Text] [Related]
8. Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Han LS; Ye J; Qiu WJ; Gao XL; Wang Y; Gu XF
J Inherit Metab Dis; 2007 Aug; 30(4):507-14. PubMed ID: 17347912
[TBL] [Abstract][Full Text] [Related]
9. Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytes.
Fukao T; Kodama A; Aoyanagi N; Tsukino R; Uemura S; Song XQ; Watanebe H; Kuhara T; Matsumoto I; Orii T; Kondo N
Clin Genet; 1996 Oct; 50(4):263-6. PubMed ID: 9001814
[TBL] [Abstract][Full Text] [Related]
10. NMR-based urinalysis for beta-ketothiolase deficiency.
Law CY; Lam CW; Ching CK; Yau KC; Ho TW; Lai CK; Mak CM
Clin Chim Acta; 2015 Jan; 438():222-5. PubMed ID: 25195009
[TBL] [Abstract][Full Text] [Related]
11. [Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency in Argentina].
de Kremer RD; de Boldini CD; Kelley RI; Civallero GE
Medicina (B Aires); 1997; 57(1):52-8. PubMed ID: 9435370
[TBL] [Abstract][Full Text] [Related]
12. Pitfalls in the use of 2-octynoic acid as an in vivo model of medium-chain acyl-coenzyme A dehydrogenase deficiency: ketone turnover and metabolite studies in the rat.
Fletcher JM; Pitt JJ
Metabolism; 1999 Jun; 48(6):685-8. PubMed ID: 10381140
[TBL] [Abstract][Full Text] [Related]
13. The identification of (E)-2-methylglutaconic acid, a new isoleucine metabolite, in the urine of patients with beta-ketothiolase deficiency, propionic acidaemia and methylmalonic acidaemia.
Duran M; Bruinvis L; Ketting D; Kamerling JP; Wadman SK; Schutgens RB
Biomed Mass Spectrom; 1982 Jan; 9(1):1-5. PubMed ID: 7059658
[TBL] [Abstract][Full Text] [Related]
14. [Beta-ketothiolase deficiency: a case of ketoacidosis with hyperglycinemia].
Elleau C; Parrot-Roulaud F; Perel Y; Divry P; Rolland MO; Zabot MT; Middleton R; Guillard JM
Pediatrie; 1992; 47(3):185-9. PubMed ID: 1319041
[TBL] [Abstract][Full Text] [Related]
15. Clinical diagnosis of long-chain acyl-coenzyme A-dehydrogenase deficiency: use of stress and fat-loading tests.
Parini R; Garavaglia B; Saudubray JM; Bardelli P; Melotti D; Zecca G; Di Donato S
J Pediatr; 1991 Jul; 119(1 Pt 1):77-80. PubMed ID: 2066862
[No Abstract] [Full Text] [Related]
16. Tiglylglycine excreted in urine in disorders of isoleucine metabolism and the respiratory chain measured by stable isotope dilution GC-MS.
Bennett MJ; Powell S; Swartling DJ; Gibson KM
Clin Chem; 1994 Oct; 40(10):1879-83. PubMed ID: 7923765
[TBL] [Abstract][Full Text] [Related]
17. Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis.
Kılıç-Yıldırım G; Durmuş-Aydoğdu S; Ceylaner S; Sass JO
Turk J Pediatr; 2017; 59(4):471-474. PubMed ID: 29624230
[TBL] [Abstract][Full Text] [Related]
18. Sudden infant death syndrome and multiple acyl-coenzyme A dehydrogenase deficiency, ethylmalonic-adipic aciduria, or systemic carnitine deficiency.
Harpey JP; Charpentier C; Coudé M; Divry P; Paturneau-Jouas M
J Pediatr; 1987 Jun; 110(6):881-4. PubMed ID: 3585604
[No Abstract] [Full Text] [Related]
19. A fatal neonatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency with homozygous A-->G985 transition.
Leung KC; Hammond JW; Chabra S; Carpenter KH; Potter M; Wilcken B
J Pediatr; 1992 Dec; 121(6):965-8. PubMed ID: 1447668
[TBL] [Abstract][Full Text] [Related]
20. Problems in the detection of fatty acid oxidation defects: experience of a quality assurance programme for qualitative urinary organic acid analysis.
Downing M; Allen JC; Bonham JR; Edwards RG; Manning NJ; Olpin SE; Pollitt RJ
J Inherit Metab Dis; 1999 May; 22(3):289-92. PubMed ID: 10384389
[No Abstract] [Full Text] [Related]
[Next] [New Search]
