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 *

211 related articles for article (PubMed ID: 8849116)

  • 1. [Ketoacidotic coma in an infant as the form of onset of a mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency].
    Yeste Fernández D; Castelló Girona F; Mora Graupera J; Riudor Taravila E; Arranz Amo J; Ribes Rubió A; Pérez Cerdá C
    An Esp Pediatr; 1996 Jun; 44(6):620-2. PubMed ID: 8849116
    [No Abstract]   [Full Text] [Related]  

  • 2. Metabolic coma with ketoacidosis and hyperglycaemia in 2-methylacetoacetyl-CoA thiolase deficiency.
    Riudor E; Ribes A; Perez-Cerda C; Arranz JA; Mora J; Yeste D; Castello F; Christensen B; Sovik O
    J Inherit Metab Dis; 1995; 18(6):748-9. PubMed ID: 8750614
    [No Abstract]   [Full Text] [Related]  

  • 3. 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]  

  • 4. [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]  

  • 5. The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients.
    Fukao T; Scriver CR; Kondo N;
    Mol Genet Metab; 2001 Feb; 72(2):109-14. PubMed ID: 11161836
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Heterogeneity of defects in mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients with 3-ketothiolase deficiency.
    Nagasawa H; Yamaguchi S; Orii T; Schutgens RB; Sweetman L; Hashimoto T
    Pediatr Res; 1989 Aug; 26(2):145-9. PubMed ID: 2570398
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency.
    Yamaguchi S; Orii T; Sakura N; Miyazawa S; Hashimoto T
    J Clin Invest; 1988 Mar; 81(3):813-7. PubMed ID: 2893809
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Biochemical profiling in two siblings with mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency.
    Ngu LH; Zabedah MY; Shanti B; Teh SH
    Malays J Pathol; 2008 Dec; 30(2):109-14. PubMed ID: 19291920
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
    Paquay S; Bourillon A; Pichard S; Benoist JF; de Lonlay P; Dobbelaere D; Fouilhoux A; Guffon N; Rouvet I; Labarthe F; Mention K; Touati G; Valayannopoulos V; Ogier de Baulny H; Elmaleh-Bergès M; Acquaviva-Bourdain C; Vianey-Saban C; Schiff M
    J Inherit Metab Dis; 2017 May; 40(3):415-422. PubMed ID: 28255778
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: an inborn error of isoleucine and ketone body metabolism.
    Søvik O
    J Inherit Metab Dis; 1993; 16(1):46-54. PubMed ID: 8487503
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mitochondrial acetoacetyl-CoA thiolase deficiency.
    Hartlage P; Eller G; Carter L; Roesel A; Hommes F
    Biochem Med Metab Biol; 1986 Oct; 36(2):198-206. PubMed ID: 3778684
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genetic complementation analysis of mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency in cultured fibroblasts.
    Søvik O; Saudubray JM; Munnich A; Sweetman L
    J Inherit Metab Dis; 1992; 15(3):359-62. PubMed ID: 1405470
    [No Abstract]   [Full Text] [Related]  

  • 14. An unusual cause of interference in a salicylate assay caused by mitochondrial acetoacetyl-CoA thiolase deficiency.
    Tilbrook LK; Slater J; Agarwal A; Cyriac J
    Ann Clin Biochem; 2008 Sep; 45(Pt 5):524-6. PubMed ID: 18753430
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Metabolic studies in twin brothers with 2-methylacetoacetyl-CoA thiolase deficiency.
    Fontaine M; Briand G; Ser N; Armelin I; Rolland MO; Degand P; Vamecq J
    Clin Chim Acta; 1996 Nov; 255(1):67-83. PubMed ID: 8930414
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Beta-ketothiolase deficiency in a Malaysian infant.
    Rajan D; Constance LSL; Brandon P
    Med J Malaysia; 2019 Apr; 74(2):174-175. PubMed ID: 31079130
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [A fatal course of alcohol-induced ketoacidosis].
    Habscheid W; Heidbreder E
    Dtsch Med Wochenschr; 1988 Dec; 113(51-52):2007-9. PubMed ID: 3203620
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Beta-ketothiolase deficiency and pregnancy.
    Kayani R; Botros S; Moore P
    Int J Obstet Anesth; 2013 Jul; 22(3):260-1. PubMed ID: 23664791
    [No Abstract]   [Full Text] [Related]  

  • 19. Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency: T2-deficient patients with "mild" mutation(s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA.
    Zhang GX; Fukao T; Rolland MO; Zabot MT; Renom G; Touma E; Kondo M; Matsuo N; Kondo N
    Pediatr Res; 2004 Jul; 56(1):60-4. PubMed ID: 15128923
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Medium-chain 3-ketoacyl-CoA thiolase deficiency].
    Yamaguchi S
    Ryoikibetsu Shokogun Shirizu; 2001; (36):80-2. PubMed ID: 11596458
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 11.