226 related articles for article (PubMed ID: 23572181)
1. Mild phenotype in a male with pyruvate dehydrogenase complex deficiency associated with novel hemizygous in-frame duplication of the E1α subunit gene (PDHA1).
Steller J; Gargus JJ; Gibbs LH; Hasso AN; Kimonis VE
Neuropediatrics; 2014 Feb; 45(1):56-60. PubMed ID: 23572181
[TBL] [Abstract][Full Text] [Related]
2. Two patients with clinically distinct manifestation of pyruvate dehydrogenase deficiency due to mutations in PDHA1 gene.
Magner M; Vinšová K; Tesařová M; Hájková Z; Hansíková H; Wenchich L; Ješina P; Smolka V; Adam T; Vaněčková M; Zeman J; Honzík T
Prague Med Rep; 2011; 112(1):18-28. PubMed ID: 21470495
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. Females with PDHA1 gene mutations: a diagnostic challenge.
Willemsen M; Rodenburg RJ; Teszas A; van den Heuvel L; Kosztolanyi G; Morava E
Mitochondrion; 2006 Jun; 6(3):155-9. PubMed ID: 16713755
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency.
Coughlin CR; Krantz ID; Schmitt ES; Zhang S; Wong LJ; Kerr DS; Ganesh J
Mol Genet Metab; 2010 Jul; 100(3):296-9. PubMed ID: 20462777
[TBL] [Abstract][Full Text] [Related]
9. Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.
DeBrosse SD; Okajima K; Zhang S; Nakouzi G; Schmotzer CL; Lusk-Kopp M; Frohnapfel MB; Grahame G; Kerr DS
Mol Genet Metab; 2012 Nov; 107(3):394-402. PubMed ID: 23021068
[TBL] [Abstract][Full Text] [Related]
10. A 1.1 million base pair X-chromosomal deletion covering the PDHA1 and CDKL5 genes in a female patient with West syndrome and pyruvate oxidation deficiency.
Mayr JA; Koch J; Fauth C; Zimmermann FA; Rauscher C; Zschocke J; Sperl W
Neuropediatrics; 2012 Jun; 43(3):130-4. PubMed ID: 22473288
[TBL] [Abstract][Full Text] [Related]
11. Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency.
Ostergaard E; Moller LB; Kalkanoglu-Sivri HS; Dursun A; Kibaek M; Thelle T; Christensen E; Duno M; Wibrand F
J Inherit Metab Dis; 2009 Dec; 32 Suppl 1():S235-9. PubMed ID: 19517265
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. [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]
14. 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]
15. Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency.
Okajima K; Korotchkina LG; Prasad C; Rupar T; Phillips JA; Ficicioglu C; Hertecant J; Patel MS; Kerr DS
Mol Genet Metab; 2008 Apr; 93(4):371-80. PubMed ID: 18164639
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. [Clinical features of pyruvate dehydrogenase complex deficiency and gene testing in one case].
Wu M; Liu L; Cai Y; Sheng H; Cheng J; Li X; Yin X; Lu Z; Lin R; Zhou Z; Fan L; Liu H
Zhonghua Er Ke Za Zhi; 2014 Nov; 52(11):863-6. PubMed ID: 25582476
[TBL] [Abstract][Full Text] [Related]
18. A pathogenic glutamate-to-aspartate substitution (D296E) in the pyruvate dehydrogenase E1 subunit gene PDHA1.
Brown RM; Head RA; Boubriak II; Leonard JV; Brown GK
Hum Mutat; 2003 Dec; 22(6):496-7. PubMed ID: 14635113
[TBL] [Abstract][Full Text] [Related]
19. Arginine 302 mutations in the pyruvate dehydrogenase E1alpha subunit gene: identification of further patients and in vitro demonstration of pathogenicity.
Otero LJ; Brown RM; Brown GK
Hum Mutat; 1998; 12(2):114-21. PubMed ID: 9671272
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]