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 *

105 related articles for article (PubMed ID: 4143539)

  • 1. A "new" disorder of isoleucine catabolism.
    Daum RS; Lamm PH; Mamer OA; Scriver CR
    Lancet; 1971 Dec; 2(7737):1289-90. PubMed ID: 4143539
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. A defect in l-isoleucine metabolism associated with alpha-methyl-beta-hydroxybutyric and alpha-methylacetoacetic aciduria: quantitative in vivo and in vitro studies.
    Gompertz D; Saudubray JM; Charpentier C; Bartlett K; Goodey PA; Draffan GH
    Clin Chim Acta; 1974 Dec; 57(3):269-81. PubMed ID: 4434646
    [No Abstract]   [Full Text] [Related]  

  • 4. Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism.
    Zschocke J; Ruiter JP; Brand J; Lindner M; Hoffmann GF; Wanders RJ; Mayatepek E
    Pediatr Res; 2000 Dec; 48(6):852-5. PubMed ID: 11102558
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Beta-ketothiolase deficiency as a cause of the "ketotic hyperglycinemia syndrome".
    Hillman RE; Keating JP
    Pediatrics; 1974 Feb; 53(2):221-5. PubMed ID: 4812006
    [No Abstract]   [Full Text] [Related]  

  • 6. 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative disease.
    Sass JO; Forstner R; Sperl W
    Brain Dev; 2004 Jan; 26(1):12-4. PubMed ID: 14729408
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism.
    Sass JO; Ensenauer R; Röschinger W; Reich H; Steuerwald U; Schirrmacher O; Engel K; Häberle J; Andresen BS; Mégarbané A; Lehnert W; Zschocke J
    Mol Genet Metab; 2008 Jan; 93(1):30-5. PubMed ID: 17945527
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate and tiglylglycine after isoleucine loading in the diagnosis of 2-methylacetoacetyl-CoA thiolase deficiency.
    Aramaki S; Lehotay D; Sweetman L; Nyhan WL; Winter SC; Middleton B
    J Inherit Metab Dis; 1991; 14(1):63-74. PubMed ID: 1861461
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Inhibition of energy metabolism by 2-methylacetoacetate and 2-methyl-3-hydroxybutyrate in cerebral cortex of developing rats.
    Rosa RB; Schuck PF; de Assis DR; Latini A; Dalcin KB; Ribeiro CA; da C Ferreira G; Maria RC; Leipnitz G; Perry ML; Filho CS; Wyse AT; Wannmacher CM; Wajner M
    J Inherit Metab Dis; 2005; 28(4):501-15. PubMed ID: 15902553
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Propionyl-CoA carboxylase deficiency with overflow of metabolites of isoleucine catabolism at all levels.
    Przyrembel H; Bremer HJ; Duran M; Bruinvis L; Ketting D; Wadman SK; Baumgartner R; Irle U; Bachmann C
    Eur J Pediatr; 1979 Jan; 130(1):1-14. PubMed ID: 759179
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical and molecular analysis of 6 Chinese patients with isoleucine metabolism defects: identification of 3 novel mutations in the HSD17B10 and ACAT1 gene.
    Su L; Li X; Lin R; Sheng H; Feng Z; Liu L
    Metab Brain Dis; 2017 Dec; 32(6):2063-2071. PubMed ID: 28875337
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Hyperglycinemia with ketosis due to a defect in isoleucine metabolism: a preliminary report.
    Keating JP; Feigin RD; Tenenbaum SM; Hillman RE
    Pediatrics; 1972 Dec; 50(6):890-5. PubMed ID: 4636454
    [No Abstract]   [Full Text] [Related]  

  • 15. Vitamin B12-dependent methylmalonicaciduria: amino acid toxicity, long chain ketonuria, and protective effect of vitamin B12.
    Hsia YE; Lilljeqvist AC; Rosenberg LE
    Pediatrics; 1970 Oct; 46(4):497-507. PubMed ID: 5503685
    [No Abstract]   [Full Text] [Related]  

  • 16. Combined malonic, methylmalonic and ethylmalonic acid semialdehyde dehydrogenase deficiencies: an inborn error of beta-alanine, L-valine and L-alloisoleucine metabolism?
    Gibson KM; Lee CF; Bennett MJ; Holmes B; Nyhan WL
    J Inherit Metab Dis; 1993; 16(3):563-7. PubMed ID: 7609453
    [No Abstract]   [Full Text] [Related]  

  • 17. [A case of beta-ketothiolase deficiency].
    Zhan JY; Liang L; Dong GP
    Zhonghua Er Ke Za Zhi; 2006 Sep; 44(9):703-4. PubMed ID: 17217670
    [No Abstract]   [Full Text] [Related]  

  • 18. Contribution of aminoacid catabolism to propionate production in methylmalonic acidaemia.
    Walter JH; Thompson GN; Leonard JV; Bartlett K; Halliday D
    Lancet; 1989 Jun; 1(8650):1298-9. PubMed ID: 2566828
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Proton MR spectroscopy in succinic semialdehyde dehydrogenase deficiency.
    Ethofer T; Seeger U; Klose U; Erb M; Kardatzki B; Kraft E; Landwehrmeyer GB; Grodd W; Storch A
    Neurology; 2004 Mar; 62(6):1016-8. PubMed ID: 15037717
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.