404 related articles for article (PubMed ID: 22896851)
1. The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.
Patel KP; O'Brien TW; Subramony SH; Shuster J; Stacpoole PW
Mol Genet Metab; 2012 Jul; 106(3):385-94. PubMed ID: 22896851
[TBL] [Abstract][Full Text] [Related]
2. The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.
Patel KP; O'Brien TW; Subramony SH; Shuster J; Stacpoole PW
Mol Genet Metab; 2012 Jan; 105(1):34-43. PubMed ID: 22079328
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients.
Pavlu-Pereira H; Silva MJ; Florindo C; Sequeira S; Ferreira AC; Duarte S; Rodrigues AL; Janeiro P; Oliveira A; Gomes D; Bandeira A; Martins E; Gomes R; Soares S; Tavares de Almeida I; Vicente JB; Rivera I
Orphanet J Rare Dis; 2020 Oct; 15(1):298. PubMed ID: 33092611
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Pyruvate dehydrogenase E3 binding protein (protein X) deficiency.
Brown RM; Head RA; Morris AA; Raiman JA; Walter JH; Whitehouse WP; Brown GK
Dev Med Child Neurol; 2006 Sep; 48(9):756-60. PubMed ID: 16904023
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Gene regulation and genetic defects in the pyruvate dehydrogenase complex.
Patel MS; Naik S; Wexler ID; Kerr DS
J Nutr; 1995 Jun; 125(6 Suppl):1753S-1757S. PubMed ID: 7782940
[TBL] [Abstract][Full Text] [Related]
11. Pyruvate dehydrogenase deficiency: morphological and metabolic effects, creation of animal model to search for curative treatment.
Ebertowska A; Ludkiewicz B; Klejbor I; Melka N; Moryś J
Folia Morphol (Warsz); 2020; 79(2):191-197. PubMed ID: 32073132
[TBL] [Abstract][Full Text] [Related]
12. Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency.
Shin HK; Grahame G; McCandless SE; Kerr DS; Bedoyan JK
Mol Genet Metab; 2017 Nov; 122(3):61-66. PubMed ID: 28918066
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Pyruvate dehydrogenase-E1α deficiency presenting as generalized dystonia: A genetic diagnosis with important clinical implications.
Kowalska A; Figura M; Zawadka M; Koziorowski D
Clin Neurol Neurosurg; 2024 Jun; 241():108307. PubMed ID: 38701546
[TBL] [Abstract][Full Text] [Related]
15. Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients.
Tajir M; Arnoux JB; Boutron A; Elalaoui SC; De Lonlay P; Sefiani A; Brivet M
Eur J Med Genet; 2012 Oct; 55(10):535-40. PubMed ID: 22766002
[TBL] [Abstract][Full Text] [Related]
16. Biochemical and structural brain alterations in female mice with cerebral pyruvate dehydrogenase deficiency.
Pliss L; Pentney RJ; Johnson MT; Patel MS
J Neurochem; 2004 Dec; 91(5):1082-91. PubMed ID: 15569252
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Magnetic resonance spectroscopic investigation of mitochondrial fuel metabolism and energetics in cultured human fibroblasts: effects of pyruvate dehydrogenase complex deficiency and dichloroacetate.
Simpson NE; Han Z; Berendzen KM; Sweeney CA; Oca-Cossio JA; Constantinidis I; Stacpoole PW
Mol Genet Metab; 2006; 89(1-2):97-105. PubMed ID: 16765624
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency.
Head RA; Brown RM; Zolkipli Z; Shahdadpuri R; King MD; Clayton PT; Brown GK
Ann Neurol; 2005 Aug; 58(2):234-41. PubMed ID: 16049940
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
