Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency-Reference-Cited by-同舟云学术

Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Published:2000-02 Issue:2 Volume:136 Page:251-254
ISSN:0022-3476
Container-title:The Journal of Pediatrics
language:en
Short-container-title:The Journal of Pediatrics

Author:

Enns Gregory M.,Bennett Michael J.,Hoppel Charles L.,Goodman Stephen I.,Weisiger Kara,Ohnstad Carol,Golabi Mahin,Packman Seymour

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology and Child Health

Reference12 articles.

1. Oxidative phosphorylation diseases;Shoffner,1995

2. Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport: fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalomyopathy;Hoppel;J Clin Invest,1987

3. Secondary 3-hydroxydicarbox-ylic aciduria mimicking long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency;Bennett;J Inher Metab Dis,1994

4. Differential diagnosis of hydroxydicarboxylic aciduria based on release of 3H2O from [9,10-3H] myristic and [9,10-3H] palmitic acid by intact cultured fibroblasts;Olpin;J Inher Metab Dis,1992

5. Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients;Tyni;J Pediatr,1997

Cited by 44 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. In vivo isotope tracing reveals a requirement for the electron transport chain in glucose and glutamine metabolism by tumors;Science Advances;2022-09-02

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

3. ALKBH7-mediated demethylation regulates mitochondrial polycistronic RNA processing;Nature Cell Biology;2021-07

4. Recent Advances in the Pathophysiology of Fatty Acid Oxidation Defects: Secondary Alterations of Bioenergetics and Mitochondrial Calcium Homeostasis Caused by the Accumulating Fatty Acids;Frontiers in Genetics;2020-11-27

5. Whole‐exome sequencing identified novel compound heterozygous variants in a Chinese neonate with liver failure and review of literature;Molecular Genetics & Genomic Medicine;2020-11-18