These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

123 related articles for article (PubMed ID: 9870212)

  • 21. 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]  

  • 22. Inborn errors of isoleucine degradation: a review.
    Korman SH
    Mol Genet Metab; 2006 Dec; 89(4):289-99. PubMed ID: 16950638
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. 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]  

  • 25. A treatable new cause of chorea: beta-ketothiolase deficiency.
    Buhaş D; Bernard G; Fukao T; Décarie JC; Chouinard S; Mitchell GA
    Mov Disord; 2013 Jul; 28(8):1054-6. PubMed ID: 23818432
    [No Abstract]   [Full Text] [Related]  

  • 26. Mitochondrial acetoacetyl-coenzyme A thiolase gene: a novel 68-bp deletion involving 3' splice site of intron 7, causing exon 8 skipping in a Caucasian patient with beta-ketothiolase deficiency.
    Fukao T; Song XQ; Yamaguchi S; Orii T; Wanders RJ; Poll-The BT; Hashimoto T
    Hum Mutat; 1995; 5(1):94-6. PubMed ID: 7728155
    [No Abstract]   [Full Text] [Related]  

  • 27. Metabolic encephalopathy in beta-ketothiolase deficiency: the first report from India.
    Akella RR; Aoyama Y; Mori C; Lingappa L; Cariappa R; Fukao T
    Brain Dev; 2014 Jun; 36(6):537-40. PubMed ID: 23958592
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 3-Hydroxydicarboxylic and 3-ketodicarboxylic aciduria in three patients: evidence for a new defect in fatty acid oxidation at the level of 3-ketoacyl-CoA thiolase.
    Bennett MJ; Sherwood WG
    Clin Chem; 1993 May; 39(5):897-901. PubMed ID: 8485884
    [TBL] [Abstract][Full Text] [Related]  

  • 29. The synthesis and characterisation of 2-methylacetoacetyl coenzyme A and its use in the identification of the site of the defect in 2-methylacetoacetic and 2-methyl-3-hydroxybutyric aciduria.
    Middleton B; Bartlett K
    Clin Chim Acta; 1983 Mar; 128(2-3):291-305. PubMed ID: 6133656
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Beta-ketothiolase deficiency brought with lethargy: case report.
    Arica V; Arica SG; Dag H; Onur H; Obut O; Gülbayzar S
    Hum Exp Toxicol; 2011 Oct; 30(10):1724-7. PubMed ID: 21247997
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Combined defect of long-chain 3-hydroxyacyl-CoA dehydrogenase, 2-enoyl-CoA hydratase and 3-oxoacyl-CoA thiolase.
    Jackson S; Kler RS; Bartlett K; Pourfarzam M; Aynsley-Green A; Bindoff LA; Turnbull DM
    Prog Clin Biol Res; 1992; 375():327-37. PubMed ID: 1438378
    [No Abstract]   [Full Text] [Related]  

  • 32. 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]  

  • 33. Inhibition of glycine oxidation in cultured fibroblasts by isoleucine.
    Hillman RE; Sowers LH; Cohen JL
    Pediatr Res; 1973 Dec; 7(12):945-7. PubMed ID: 4753048
    [No Abstract]   [Full Text] [Related]  

  • 34. 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease.
    Perez-Cerda C; García-Villoria J; Ofman R; Sala PR; Merinero B; Ramos J; García-Silva MT; Beseler B; Dalmau J; Wanders RJ; Ugarte M; Ribes A
    Pediatr Res; 2005 Sep; 58(3):488-91. PubMed ID: 16148061
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism.
    Gibson KM; Burlingame TG; Hogema B; Jakobs C; Schutgens RB; Millington D; Roe CR; Roe DS; Sweetman L; Steiner RD; Linck L; Pohowalla P; Sacks M; Kiss D; Rinaldo P; Vockley J
    Pediatr Res; 2000 Jun; 47(6):830-3. PubMed ID: 10832746
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency.
    Ensenauer R; Niederhoff H; Ruiter JP; Wanders RJ; Schwab KO; Brandis M; Lehnert W
    Ann Neurol; 2002 May; 51(5):656-9. PubMed ID: 12112118
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Propionic acidaemia presenting with pancytopaenia in infancy.
    Sweetman L; Nyhan WL; Cravens J; Zomer Y; Plunket DC
    J Inherit Metab Dis; 1980; 2(3):65-9. PubMed ID: 6796762
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases.
    Poll-The BT; Wanders RJ; Ruiter JP; Ofman R; Majoie CB; Barth PG; Duran M
    Mol Genet Metab; 2004 Apr; 81(4):295-9. PubMed ID: 15059617
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 3-Ketothiolase deficiency.
    Middleton B; Bartlett K; Romanos A; Gomez Vazquez J; Conde C; Cannon RA; Lipson M; Sweetman L; Nyhan WL
    Eur J Pediatr; 1986 Apr; 144(6):586-9. PubMed ID: 3709573
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.