BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

181 related articles for article (PubMed ID: 20462777)

  • 21. [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]  

  • 22. Pyruvate dehydrogenase deficiency presenting as dystonia in childhood.
    Head RA; de Goede CG; Newton RW; Walter JH; McShane MA; Brown RM; Brown GK
    Dev Med Child Neurol; 2004 Oct; 46(10):710-2. PubMed ID: 15473177
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. 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]  

  • 25. A cognitively normal PDH-deficient 18-year-old man carrying the R263G mutation in the PDHA1 gene.
    Bachmann-Gagescu R; Merritt JL; Hahn SH
    J Inherit Metab Dis; 2009 Dec; 32 Suppl 1():. PubMed ID: 19639391
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. Neonatal pyruvate dehydrogenase deficiency due to a R302H mutation in the PDHA1 gene: MRI findings.
    Soares-Fernandes JP; Teixeira-Gomes R; Cruz R; Ribeiro M; Magalhães Z; Rocha JF; Leijser LM
    Pediatr Radiol; 2008 May; 38(5):559-62. PubMed ID: 18197404
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation.
    João Silva M; Pinheiro A; Eusébio F; Gaspar A; Tavares de Almeida I; Rivera I
    Eur J Pediatr; 2009 Jan; 168(1):17-22. PubMed ID: 18398624
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. [Identification of a novel pathogenic mutation in PDHA1 gene for pyruvate dehydrogenase complex deficiency].
    Wu ML; Liu L; Mao XJ; Peng MZ; Liu HS; Sheng HY; Cai YN; Mei HF; Fan C; Huang YL; Li XZ; Cheng J
    Zhongguo Dang Dai Er Ke Za Zhi; 2015 Aug; 17(8):775-9. PubMed ID: 26287337
    [TBL] [Abstract][Full Text] [Related]  

  • 32. [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]  

  • 33. 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]  

  • 34. Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.
    Lissens W; Vreken P; Barth PG; Wijburg FA; Ruitenbeek W; Wanders RJ; Seneca S; Liebaers I; De Meirleir L
    Eur J Pediatr; 1999 Oct; 158(10):853-7. PubMed ID: 10486093
    [TBL] [Abstract][Full Text] [Related]  

  • 35. A putative exonic splicing enhancer in exon 7 of the PDHA1 gene affects splicing of adjacent exons.
    Ridout CK; Keighley P; Krywawych S; Brown RM; Brown GK
    Hum Mutat; 2008 Mar; 29(3):451. PubMed ID: 18273899
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
    Odièvre MH; Chretien D; Munnich A; Robinson BH; Dumoulin R; Masmoudi S; Kadhom N; Rötig A; Rustin P; Bonnefont JP
    Hum Mutat; 2005 Mar; 25(3):323-4. PubMed ID: 15712224
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. 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]  

  • 40. Detection of pyruvate dehydrogenase E1 alpha-subunit deficiencies in females by immunohistochemical demonstration of mosaicism in cultured fibroblasts.
    Lib MY; Brown RM; Brown GK; Marusich MF; Capaldi RA
    J Histochem Cytochem; 2002 Jul; 50(7):877-84. PubMed ID: 12070266
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.