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 *

103 related articles for article (PubMed ID: 3932899)

  • 21. [Diagnosis of pyruvate dehydrogenase complex deficiency in biopsied muscles and cultured skin fibroblasts].
    Naito E; Toshima K; Kuroda Y; Takeda E; Miyao M
    No To Hattatsu; 1986; 18(6):459-63. PubMed ID: 3098264
    [No Abstract]   [Full Text] [Related]  

  • 22. Estimation of pyruvate dehydrogenase (E1) activity in human skeletal muscle; three cases with E1 deficiency.
    van Laack HL; Ruitenbeek W; Trijbels JM; Sengers RC; Gabreëls FJ; Janssen AJ; Kerkhof CM
    Clin Chim Acta; 1988 Jan; 171(1):109-18. PubMed ID: 3127087
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Molecular analysis of abnormal pyruvate dehydrogenase in a patient with thiamine-responsive congenital lactic acidemia.
    Naito E; Ito M; Takeda E; Yokota I; Yoshijima S; Kuroda Y
    Pediatr Res; 1994 Sep; 36(3):340-6. PubMed ID: 7808831
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Association of cerebral dysgenesis and lactic acidemia with X-linked PDH E1 alpha subunit mutations in females.
    Otero LJ; Brown GK; Silver K; Arnold DL; Matthews PM
    Pediatr Neurol; 1995 Nov; 13(4):327-32. PubMed ID: 8771169
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency.
    Brown RM; Head RA; Boubriak II; Leonard JV; Thomas NH; Brown GK
    Hum Genet; 2004 Jul; 115(2):123-7. PubMed ID: 15138885
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Lactic acidemia, neurologic deterioration and carbohydrate dependence in a girl with dihydrolipoyl dehydrogenase deficiency.
    Robinson BH; Taylor J; Kahler SG; Kirkman HN
    Eur J Pediatr; 1981 Mar; 136(1):35-9. PubMed ID: 6894281
    [No Abstract]   [Full Text] [Related]  

  • 27. Pyruvate dehydrogenase deficiency and epilepsy.
    Prasad C; Rupar T; Prasad AN
    Brain Dev; 2011 Nov; 33(10):856-65. PubMed ID: 21908116
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Lipoamide dehydrogenase deficiency due to a novel mutation in the interface domain.
    Shany E; Saada A; Landau D; Shaag A; Hershkovitz E; Elpeleg ON
    Biochem Biophys Res Commun; 1999 Aug; 262(1):163-6. PubMed ID: 10448086
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Immunochemical analysis of normal and mutant forms of human pyruvate dehydrogenase.
    Wicking CA; Scholem RD; Hunt SM; Brown GK
    Biochem J; 1986 Oct; 239(1):89-96. PubMed ID: 3800988
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.
    Imbard A; Boutron A; Vequaud C; Zater M; de Lonlay P; de Baulny HO; Barnerias C; Miné M; Marsac C; Saudubray JM; Brivet M
    Mol Genet Metab; 2011 Dec; 104(4):507-16. PubMed ID: 21914562
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Unilateral periventricular leukomalacia in association with pyruvate dehydrogenase deficiency.
    Sharma R; Sharrard MJ; Connolly DJ; Mordekar SR
    Dev Med Child Neurol; 2012 May; 54(5):469-71. PubMed ID: 21895644
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Clinical diversity of pyruvate dehydrogenase deficiency.
    Cross JH; Connelly A; Gadian DG; Kendall BE; Brown GK; Brown RM; Leonard JV
    Pediatr Neurol; 1994 Jun; 10(4):276-83. PubMed ID: 8068153
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
    Lissens W; De Meirleir L; Seneca S; Liebaers I; Brown GK; Brown RM; Ito M; Naito E; Kuroda Y; Kerr DS; Wexler ID; Patel MS; Robinson BH; Seyda A
    Hum Mutat; 2000; 15(3):209-19. PubMed ID: 10679936
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Recurrent muscle weakness and ataxia in thiamine-responsive pyruvate dehydrogenase complex deficiency.
    Kinoshita H; Sakuragawa N; Tada H; Naito E; Kuroda Y; Nonaka I
    J Child Neurol; 1997 Feb; 12(2):141-4. PubMed ID: 9075024
    [No Abstract]   [Full Text] [Related]  

  • 35. Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency.
    Lissens W; De Meirleir L; Seneca S; Benelli C; Marsac C; Poll-The BT; Briones P; Ruitenbeek W; van Diggelen O; Chaigne D; Ramaekers V; Liebaers I
    Hum Mutat; 1996; 7(1):46-51. PubMed ID: 8664900
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex.
    Chun K; MacKay N; Petrova-Benedict R; Robinson BH
    Hum Mol Genet; 1993 Apr; 2(4):449-54. PubMed ID: 8504306
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Outcome of thiamine treatment in a child with Leigh disease due to thiamine-responsive pyruvate dehydrogenase deficiency.
    Di Rocco M; Lamba LD; Minniti G; Caruso U; Naito E
    Eur J Paediatr Neurol; 2000; 4(3):115-7. PubMed ID: 10872106
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Neonatal pyruvate dehydrogenase deficiency due to a R302H mutation in the PDHA1 gene: MRI findings.
    Soares-Fernandes JP; Teixeira-Gomes R; Cruz R; Ribeiro M; Magalhães Z; Rocha JF; Leijser LM
    Pediatr Radiol; 2008 May; 38(5):559-62. PubMed ID: 18197404
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Mechanisms of expression of pyruvate dehydrogenase deficiency caused by an E1alpha subunit mutation.
    Morten KJ; Caky M; Matthews PM
    Neurology; 1998 Nov; 51(5):1324-30. PubMed ID: 9818854
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Detection of pyruvate metabolism disorders by culture of skin fibroblasts with dichloroacetate.
    Naito E; Kuroda Y; Takeda E; Yokota I; Kobashi H; Miyao M
    Pediatr Res; 1988 Jun; 23(6):561-4. PubMed ID: 2839811
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.