BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

233 related articles for article (PubMed ID: 184426)

  • 1. Lactic acidosis in three sibs due to defects in both pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase complexes.
    Haworth JC; Perry TL; Blass JP; Hansen S; Urquhart N
    Pediatrics; 1976 Oct; 58(4):564-72. PubMed ID: 184426
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Pyruvate-dehydrogenase deficiency. Lethal course of the disease during infancy (author's transl)].
    Wendel U; Przyrembel H; Becker K; Walther B; Berger R; Bremer HJ
    Monatsschr Kinderheilkd (1902); 1978 Mar; 126(3):140-7. PubMed ID: 417240
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Deficiency of dihydrolipoyl dehydrogenase (a component of the pyruvate and alpha-ketoglutarate dehydrogenase complexes): a cause of congenital chronic lactic acidosis in infancy.
    Robinson BH; Taylor J; Sherwood WG
    Pediatr Res; 1977 Dec; 11(12):1198-202. PubMed ID: 413089
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Ketonic diet in the management of pyruvate dehydrogenase deficiency.
    Falk RE; Cederbaum SD; Blass JP; Gibson GE; Kark RA; Carrel RE
    Pediatrics; 1976 Nov; 58(5):713-21. PubMed ID: 824610
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Lactic acidosis in childhood.
    Israels S; Haworth JC; Dunn HG; Applegarth DA
    Adv Pediatr; 1976; 22():267-303. PubMed ID: 178159
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Abnormal pyruvate and alpha-ketoglutarate dehydrogenase complexes in a patient with lactic acidemia.
    Kuroda Y; Kline JJ; Sweetman L; Nyhan WL; Groshong TD
    Pediatr Res; 1979 Aug; 13(8):928-31. PubMed ID: 481967
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Fatal lactic acidosis in a newborn attributable to a congenital defect of pyruvate dehydrogenase.
    Strömme JH; Borud O; Moe PJ
    Pediatr Res; 1976 Jan; 10(1):62-6. PubMed ID: 813176
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Thiamine-responsive congenital lactic acidosis: clinical and biochemical studies.
    Toyoshima M; Oka A; Egi Y; Yamamoto T; Onozuka M; Nosaka K; Naito E; Yamada K
    Pediatr Neurol; 2005 Aug; 33(2):98-104. PubMed ID: 16087053
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Effect of lipoic acid in a patient with defective activity of pyruvate dehydrogenase, 2-oxoglutarate dehydrogenase, and branched-chain keto acid dehydrogenase.
    Yoshida I; Sweetman L; Kulovich S; Nyhan WL; Robinson BH
    Pediatr Res; 1990 Jan; 27(1):75-9. PubMed ID: 2104971
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Thiamine-responsive lactic acidosis.
    Nutr Rev; 1974 Mar; 32(3):95. PubMed ID: 4593262
    [No Abstract]   [Full Text] [Related]  

  • 11. [Neonatal lactic acidosis caused by severe pyruvate carboxylase deficiency].
    Merinero Cortés B; del Valle Martínez J; Pérez-Cerdá Silvestre C; García Muñoz MJ; Cortés Coto MT; García Aparicio J; Sáez Pérez E; Ugarte Pérez M
    An Esp Pediatr; 1988 Jul; 29(1):57-60. PubMed ID: 3142324
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Alpha-ketoglutarate dehydrogenase deficiency presenting as congenital lactic acidosis.
    Bonnefont JP; Chretien D; Rustin P; Robinson B; Vassault A; Aupetit J; Charpentier C; Rabier D; Saudubray JM; Munnich A
    J Pediatr; 1992 Aug; 121(2):255-8. PubMed ID: 1640293
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
    Odièvre MH; Chretien D; Munnich A; Robinson BH; Dumoulin R; Masmoudi S; Kadhom N; Rötig A; Rustin P; Bonnefont JP
    Hum Mutat; 2005 Mar; 25(3):323-4. PubMed ID: 15712224
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Sensitivity to carbohydrate in a patient with familial intermittent lactic acidosis and pyruvate dehydrogenase deficiency.
    Cederbaum SD; Blass JP; Minkoff N; Brown WJ; Cotton ME; Harris SH
    Pediatr Res; 1976 Aug; 10(8):713-20. PubMed ID: 821033
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Pyruvate dehydrogenase deficiency in a child with persistent lactic acidosis].
    Dworzak E; Grunicke H; Berger H; Jarosch E; Haas H; Höpfel I
    J Clin Chem Clin Biochem; 1985 Jun; 23(6):323-9. PubMed ID: 3926941
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Enzymopathic congenital hyperlactacidemia].
    Leroux JP; Marsac C; Saudubray JM
    Ann Biol Clin (Paris); 1976; 34(2):151-9. PubMed ID: 184725
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Familial partial pyruvic dehydrogenase deficiency (author's transl)].
    Kohns U; Havers W; Andler W; Fischer E; Berger R
    Klin Padiatr; 1980 Nov; 192(6):565-72. PubMed ID: 6783779
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Lactic acidosis due to pyruvate carboxylase deficiency.
    Haworth JC; Robinson BH; Perry TL
    J Inherit Metab Dis; 1981; 4(2):57-8. PubMed ID: 6790846
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Congenital lactic acidosis, alpha-ketoglutaric aciduria and variant form of maple syrup urine disease due to a single enzyme defect: dihydrolipoyl dehydrogenase deficiency.
    Munnich A; Saudubray JM; Taylor J; Charpentier C; Marsac C; Rocchiccioli F; Amedee-Manesme O; Coude FX; Frezal J; Robinson BH
    Acta Paediatr Scand; 1982 Jan; 71(1):167-71. PubMed ID: 6897145
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The clinical and biochemical implications of pyruvate carboxylase deficiency.
    DeVivo DC; Haymond MW; Leckie MP; Bussman YL; McDougal DB; Pagliara AS
    J Clin Endocrinol Metab; 1977 Dec; 45(6):1281-96. PubMed ID: 412860
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.