Literature DB >> 8584393

Defect in the X-lipoyl-containing component of the pyruvate dehydrogenase complex in a patient with neonatal lactic acidemia.

V Geoffroy1, F Fouque, C Benelli, F Poggi, J M Saudubray, W Lissens, L D Meirleir, C Marsac, J G Lindsay, S J Sanderson.   

Abstract

Entities:  

Mesh：

Year:  1996        PMID： 8584393

Source DB:  PubMed          Journal:  Pediatrics        ISSN： 0031-4005            Impact factor:   7.124


× No keyword cloud information.
  7 in total

Review 1.  The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.

Authors:  Kavi P Patel; Thomas W O'Brien; Sankarasubramon H Subramony; Jonathan Shuster; Peter W Stacpoole
Journal:  Mol Genet Metab       Date:  2011-10-07       Impact factor: 4.797

2.  The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.

Authors:  Kavi P Patel; Thomas W O'Brien; Sankarasubramon H Subramony; Jonathan Shuster; Peter W Stacpoole
Journal:  Mol Genet Metab       Date:  2012-07       Impact factor: 4.797

3.  Reconstitution of mammalian pyruvate dehydrogenase and 2-oxoglutarate dehydrogenase complexes: analysis of protein X involvement and interaction of homologous and heterologous dihydrolipoamide dehydrogenases.

Authors:  S J Sanderson; S S Khan; R G McCartney; C Miller; J G Lindsay
Journal:  Biochem J       Date:  1996-10-01       Impact factor: 3.857

Review 4.  The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.

Authors:  Wolfgang Sperl; Leanne Fleuren; Peter Freisinger; Tobias B Haack; Antonia Ribes; René G Feichtinger; Richard J Rodenburg; Franz A Zimmermann; Johannes Koch; Isabel Rivera; Holger Prokisch; Jan A Smeitink; Johannes A Mayr
Journal:  J Inherit Metab Dis       Date:  2014-12-20       Impact factor: 4.982

Review 5.  Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis.

Authors:  B Aral; C Benelli; G Ait-Ghezala; M Amessou; F Fouque; C Maunoury; N Créau; P Kamoun; C Marsac
Journal:  Am J Hum Genet       Date:  1997-12       Impact factor: 11.025

6.  Pyruvate dehydrogenase complex deficiency and absence of subunit X.

Authors:  L De Meirleir; W Lissens; C Benelli; C Marsac; J De Klerk; J Scholte; O van Diggelen; W Kleijer; S Seneca; I Liebaers
Journal:  J Inherit Metab Dis       Date:  1998-02       Impact factor: 4.982

7.  Lactic acidosis and developmental delay due to deficiency of E3 binding protein (protein X) of the pyruvate dehydrogenase complex.

Authors:  D G Ramadan; R A Head; A Al-Tawari; Y Habeeb; M Zaki; F Al-Ruqum; G T N Besley; J E Wraith; R M Brown; G K Brown
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.