367 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]
