Molecular study of electron transfer flavoprotein α-subunit deficiency in two Japanese children with different phenotypes of glutaric acidemia type II-Reference-Cited by-同舟云学术

Molecular study of electron transfer flavoprotein α-subunit deficiency in two Japanese children with different phenotypes of glutaric acidemia type II

Published:2002-09 Issue:9 Volume:32 Page:707-712
ISSN:0014-2972
Container-title:European Journal of Clinical Investigation
language:en
Short-container-title:

Author:

Purevjav E.,Kimura M.,Takusa Y.,Ohura T.,Tsuchiya M.,Hara N.,Fukao T.,Yamaguchi S.

Publisher

Wiley

Subject

Clinical Biochemistry,Biochemistry,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1365-2362.2002.01045.x/fullpdf

Reference26 articles.

1. Deficiency of electron transfer flavoprotein or electron transfer flavoprotein: ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts;Frerman;Proc Natl Acad Sci USA,1985

2. Biosynthesis of electron transfer flavoprotein in a cell-free system and in cultured human fibroblasts: defect in alpha subunit synthesis is a primary lesion in glutaric acidemia type II;Ikeda;J Clin Invest,1986

3. Clinical and biochemical variation and family studies in the multiple acyl-CoA dehydrogenation disorders;Rhead;Pediatr Res,1987

4. Glutaric acidemia type II. heterogeneity of clinical and biochemical phenotype;Loehr;Pediatr Res,1990

5. Newly identified forms of electron transfer flavoprotein deficiency in two patients with glutaric acidemia type II;Yamaguchi;Pediatr Res,1991

Cited by 21 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. Characterizing mitochondrial features in osteoarthritis through integrative multi-omics and machine learning analysis;Frontiers in Immunology;2024-07-04

2. A compound heterozygote case of glutaric aciduria type II in a patient carrying a novel candidate variant in ETFDH gene: A case report and literature review on compound heterozygote cases;Molecular Genetics & Genomic Medicine;2024-07

3. Stealthy progression of type 2 diabetes mellitus due to impaired ketone production in an adult patient with multiple acyl-CoA dehydrogenase deficiency;Molecular Genetics and Metabolism Reports;2024-03

4. Nitrogen nutrition contributes to plant fertility by affecting meiosis initiation;Nature Communications;2022-01-25

5. Clinical Presentations and Genetic Characteristics of Late-Onset MADD Due to ETFDH Mutations in Five Patients: A Case Series;Frontiers in Neurology;2021-11-08