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 *

366 related articles for article (PubMed ID: 12379317)

  • 1. Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region.
    Naito E; Ito M; Yokota I; Saijo T; Matsuda J; Ogawa Y; Kitamura S; Takada E; Horii Y; Kuroda Y
    Biochim Biophys Acta; 2002 Oct; 1588(1):79-84. PubMed ID: 12379317
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Diagnosis and molecular analysis of three male patients with thiamine-responsive pyruvate dehydrogenase complex deficiency.
    Naito E; Ito M; Yokota I; Saijo T; Ogawa Y; Kuroda Y
    J Neurol Sci; 2002 Sep; 201(1-2):33-7. PubMed ID: 12163191
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A Korean female patient with thiamine-responsive pyruvate dehydrogenase complex deficiency due to a novel point mutation (Y161C)in the PDHA1 gene.
    Lee EH; Ahn MS; Hwang JS; Ryu KH; Kim SJ; Kim SH
    J Korean Med Sci; 2006 Oct; 21(5):800-4. PubMed ID: 17043409
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Thiamine-responsive lactic acidaemia: role of pyruvate dehydrogenase complex.
    Naito E; Ito M; Yokota I; Saijo T; Matsuda J; Kuroda Y
    Eur J Pediatr; 1998 Aug; 157(8):648-52. PubMed ID: 9727848
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency.
    Naito E; Ito M; Yokota I; Saijo T; Matsuda J; Osaka H; Kimura S; Kuroda Y
    J Inherit Metab Dis; 1997 Aug; 20(4):539-48. PubMed ID: 9266390
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Concomitant administration of sodium dichloroacetate and thiamine in west syndrome caused by thiamine-responsive pyruvate dehydrogenase complex deficiency.
    Naito E; Ito M; Yokota I; Saijo T; Chen S; Maehara M; Kuroda Y
    J Neurol Sci; 1999 Dec; 171(1):56-9. PubMed ID: 10567050
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Characterization of point mutations in patients with pyruvate dehydrogenase deficiency: role of methionine-181, proline-188, and arginine-349 in the alpha subunit.
    Tripatara A; Korotchkina LG; Patel MS
    Arch Biochem Biophys; 1999 Jul; 367(1):39-50. PubMed ID: 10375397
    [TBL] [Abstract][Full Text] [Related]  

  • 9. E1 pyruvate dehydrogenase deficiency in a child with motor neuropathy.
    Bonne G; Benelli C; De Meirleir L; Lissens W; Chaussain M; Diry M; Clot JP; Ponsot G; Geoffroy V; Leroux JP
    Pediatr Res; 1993 Mar; 33(3):284-8. PubMed ID: 8460066
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Thiamine Responsive Pyruvate Dehydrogenase Complex Deficiency: A Potentially Treatable Cause of Leigh's Disease.
    Jauhari P; Sankhyan N; Vyas S; Singhi P
    J Pediatr Neurosci; 2017; 12(3):265-267. PubMed ID: 29204204
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Differential effect of DCA treatment on the pyruvate dehydrogenase complex in patients with severe PDHC deficiency.
    Fouque F; Brivet M; Boutron A; Vequaud C; Marsac C; Zabot MT; Benelli C
    Pediatr Res; 2003 May; 53(5):793-9. PubMed ID: 12621116
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Pyruvate dehydrogenase complex deficiency is linked to regulatory loop disorder in the αV138M variant of human pyruvate dehydrogenase.
    Whitley MJ; Arjunan P; Nemeria NS; Korotchkina LG; Park YH; Patel MS; Jordan F; Furey W
    J Biol Chem; 2018 Aug; 293(34):13204-13213. PubMed ID: 29970614
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Characterization of a missense mutation at histidine-44 in a pyruvate dehydrogenase-deficient patient.
    Jacobia SJ; Korotchkina LG; Patel MS
    Biochim Biophys Acta; 2002 Jan; 1586(1):32-42. PubMed ID: 11781147
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha subunit.
    Hemalatha SG; Kerr DS; Wexler ID; Lusk MM; Kaung M; Du Y; Kolli M; Schelper RL; Patel MS
    Hum Mol Genet; 1995 Feb; 4(2):315-8. PubMed ID: 7757088
    [No Abstract]   [Full Text] [Related]  

  • 15. A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene.
    Tulinius M; Darin N; Wiklund LM; Holmberg E; Eriksson JE; Lissens W; De Meirleir L; Holme E
    Eur J Pediatr; 2005 Feb; 164(2):99-103. PubMed ID: 15558317
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Thiamine responsive pyruvate dehydrogenase deficiency.
    Narisawa K; Endo H; Miyabayashi S; Tada K
    J Nutr Sci Vitaminol (Tokyo); 1992; Spec No():585-8. PubMed ID: 1297818
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Furan-based inhibitors of pyruvate dehydrogenase: SAR study, biochemical evaluation and computational analysis.
    Chan AHY; Ho TCS; Parle DR; Leeper FJ
    Org Biomol Chem; 2023 Feb; 21(8):1755-1763. PubMed ID: 36723268
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Defect in the lipoyl-bearing protein X subunit of the pyruvate dehydrogenase complex in two patients with encephalomyelopathy.
    Marsac C; Stansbie D; Bonne G; Cousin J; Jehenson P; Benelli C; Leroux JP; Lindsay G
    J Pediatr; 1993 Dec; 123(6):915-20. PubMed ID: 8229524
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 19.