Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns–Sayre/MELAS overlap syndrome and A3243G mtDNA mutation-Reference-Cited by-同舟云学术

Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns–Sayre/MELAS overlap syndrome and A3243G mtDNA mutation

Published:1998-05 Issue:2 Volume:157 Page:206-213
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Wilichowski Ekkehard,Christoph Korenke Georg,Ruitenbeek Wim,De Meirleir Linda,Hagendorff Angela,Janssen Antoon J.M,Lissens Willy,Hanefeld Folker

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology

Reference52 articles.

1. A fatal, systemic mitochondrial disease with decreased mitochondrial enzyme activities, abnormal ultrastructure of the mitochondria and deficiency of the heat shock protein 60;Agsteribbe;Biochem. Biophys. Res. Commun.,1993

2. Sequence and organization of the human mitochondrial genome;Anderson;Nature,1981

3. Lumping or splitting? 'Ophthalmoplegia-plus' or Kearns–Sayre syndrome;Berenberg;Ann. Neurol.,1977

4. Pyruvate dehydrogenase E1α deficiency;Brown;J. Inherit. Metab. Dis.,1992

5. The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency;Brown;Ann. NY Acad. Sci.,1989

Cited by 26 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Hereditary mitochondrial diseases and mitochondrial transplantation;Mitochondrial Transplantation and Transfer;2024

2. Transfer RNA Mutation Associated with Type 2 Diabetes Mellitus;Biology;2023-06-16

3. Progressive external ophthalmoplegia;Mitochondrial Diseases;2023

4. Clinical Characteristics of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes;Life;2021-10-20

5. Mitochondrial dysfunction, AMPK activation and peroxisomal metabolism: A coherent scenario for non-canonical 3-methylglutaconic acidurias;Biochimie;2020-01