116 related articles for article (PubMed ID: 26287337)
21. Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells.
Pinheiro A; Silva MJ; Pavlu-Pereira H; Florindo C; Barroso M; Marques B; Correia H; Oliveira A; Gaspar A; Tavares de Almeida I; Rivera I
Gene; 2016 Oct; 591(2):417-24. PubMed ID: 27343776
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit.
Cameron JM; Levandovskiy V; Mackay N; Tein I; Robinson BH
Am J Med Genet A; 2004 Nov; 131(1):59-66. PubMed ID: 15384102
[TBL] [Abstract][Full Text] [Related]
24. Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency.
Quintana E; Gort L; Busquets C; Navarro-Sastre A; Lissens W; Moliner S; Lluch M; Vilaseca MA; De Meirleir L; Ribes A; Briones P;
Clin Genet; 2010 May; 77(5):474-82. PubMed ID: 20002461
[TBL] [Abstract][Full Text] [Related]
25. Solvent accessibility of E1α and E1β residues with known missense mutations causing pyruvate dehydrogenase complex (PDC) deficiency: Impact on PDC-E1 structure and function.
Ducich NH; Mears JA; Bedoyan JK
J Inherit Metab Dis; 2022 May; 45(3):557-570. PubMed ID: 35038180
[TBL] [Abstract][Full Text] [Related]
26. [Pyruvate dehydrogenase deficit associated to the C515T mutation in exon 6 of the E1alpha gene].
Blanco-Barca O; Gomez-Lado C; Rodrigo-Saez E; Curros-Novos C; Briones-Godino P; Eiris-Punal J; Castro-Gago M
Rev Neurol; 2006 Sep 16-30; 43(6):341-5. PubMed ID: 16981164
[TBL] [Abstract][Full Text] [Related]
27. Folding and assembly defects of pyruvate dehydrogenase deficiency-related variants in the E1α subunit of the pyruvate dehydrogenase complex.
Drakulic S; Rai J; Petersen SV; Golas MM; Sander B
Cell Mol Life Sci; 2018 Aug; 75(16):3009-3026. PubMed ID: 29445841
[TBL] [Abstract][Full Text] [Related]
28. Metabolic stroke-like events in a girl with pyruvate dehydrogenase complex deficiency caused by a novel de novo mutation in PDHA1.
Fecarotta S; D'Amico A; Di Gennaro S; Alagia M; Rossi A; Zuppaldi C; Parenti G; Terrone G
Neurol Sci; 2024 Jun; 45(6):2913-2914. PubMed ID: 38286917
[No Abstract] [Full Text] [Related]
29. Somatic mosaicism in a male with an exon skipping mutation in PDHA1 of the pyruvate dehydrogenase complex results in a milder phenotype.
Okajima K; Warman ML; Byrne LC; Kerr DS
Mol Genet Metab; 2006 Feb; 87(2):162-8. PubMed ID: 16412675
[TBL] [Abstract][Full Text] [Related]
30. Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia.
Debray FG; Lambert M; Gagne R; Maranda B; Laframboise R; MacKay N; Robinson BH; Mitchell GA
Neuropediatrics; 2008 Feb; 39(1):20-3. PubMed ID: 18504677
[TBL] [Abstract][Full Text] [Related]
31. Pyruvate dehydrogenase complex deficiency and its relationship with epilepsy frequency--An overview.
Bhandary S; Aguan K
Epilepsy Res; 2015 Oct; 116():40-52. PubMed ID: 26354166
[TBL] [Abstract][Full Text] [Related]
32. Manifestations of X-linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers.
Savvidou A; Sofou K; Eklund EA; Aronsson J; Darin N
Eur J Neurol; 2024 Jul; 31(7):e16283. PubMed ID: 38497591
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. [Analysis of a female neonate with pyruvate dehydrogenase complex deficiency].
Zhang K; Li H; Li X; Liu Y; Gai Z
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Aug; 35(4):548-552. PubMed ID: 30098254
[TBL] [Abstract][Full Text] [Related]
35. Inactivation of the murine pyruvate dehydrogenase (Pdha1) gene and its effect on early embryonic development.
Johnson MT; Mahmood S; Hyatt SL; Yang HS; Soloway PD; Hanson RW; Patel MS
Mol Genet Metab; 2001 Nov; 74(3):293-302. PubMed ID: 11708858
[TBL] [Abstract][Full Text] [Related]
36. [Analysis of PDHA1 gene variant in a patient with pyruvate dehydrogenase E1alpha deficiency and pyramidal tract involvement].
Shen N; Wang H; Shi Y; Geng D; Qun S; Ge W
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Jun; 37(6):657-660. PubMed ID: 32472546
[TBL] [Abstract][Full Text] [Related]
37. Analysis of exonic mutations leading to exon skipping in patients with pyruvate dehydrogenase E1 alpha deficiency.
Cardozo AK; De Meirleir L; Liebaers I; Lissens W
Pediatr Res; 2000 Dec; 48(6):748-53. PubMed ID: 11102541
[TBL] [Abstract][Full Text] [Related]
38. [Leigh syndrome due to pyruvate dehydrogenase E1 alpha subunit gene mutation: a complicated and difficult case study].
Zhang Y; Sun F; Yang YL; Chang XZ; Qi Y; Qi ZY; Xiao JX; Qin J; Wu XR
Zhongguo Dang Dai Er Ke Za Zhi; 2007 Jun; 9(3):216-9. PubMed ID: 17582259
[TBL] [Abstract][Full Text] [Related]
39. Structural and functional impact of clinically relevant E1α variants causing pyruvate dehydrogenase complex deficiency.
Pavlu-Pereira H; Lousa D; Tomé CS; Florindo C; Silva MJ; de Almeida IT; Leandro P; Rivera I; Vicente JB
Biochimie; 2021 Apr; 183():78-88. PubMed ID: 33588022
[TBL] [Abstract][Full Text] [Related]
40. Pyruvate Dehydrogenase Complex Deficiency due to a De Novo Heterozygous Mutation in Exon 7 of PDHA 1 Gene Presenting as Isolated Severe Lactic Acidosis in an Infant.
Ganesh R; Suresh N; Vasuki B; Narayanan K
Indian J Pediatr; 2021 Jan; 88(1):88. PubMed ID: 32537710
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]