Enzymatic diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by detecting 2-octenoyl-CoA production using high-performance liquid chromatography: A practical confirmatory test for tandem mass spectrometry newborn screening in Japan-Reference-Cited by-同舟云学术

Enzymatic diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by detecting 2-octenoyl-CoA production using high-performance liquid chromatography: A practical confirmatory test for tandem mass spectrometry newborn screening in Japan

Published:2005-09 Issue:2 Volume:823 Page:122-130
ISSN:1570-0232
Container-title:Journal of Chromatography B
language:en
Short-container-title:Journal of Chromatography B

Author:

Tajima Go,Sakura Nobuo,Yofune Hiroko,Nishimura Yutaka,Ono Hiroaki,Hasegawa Yuki,Hata Ikue,Kimura Masahiko,Yamaguchi Seiji,Shigematsu Yosuke,Kobayashi Masao

Publisher

Elsevier BV

Subject

Cell Biology,Clinical Biochemistry,Biochemistry,General Medicine,Analytical Chemistry

Reference41 articles.

1. Genetic Deficiency of Medium-Chain Acyl Coenzyme A Dehydrogenase: Studies in Cultured Skin Fibroblasts and Peripheral Mononuclear Leukocytes

2. Fluorometric assay of acyl-CoA dehydrogenases in normal and mutant human fibroblasts

3. An acyl-coenzyme a dehydrogenase assay utilizing the ferricenium ion

4. Fatty acid β-oxidation in leukocytes from control subjects and medium-chain acyl-CoA dehydrogenase deficient patients

5. Dicarboxylic Aciduria: Deficient [1- 14 C]Octanoate Oxidation and Medium-Chain Acyl-CoA Dehydrogenase in Fibroblasts

Cited by 22 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. MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM;Human Genome Variation;2022-01-17

2. Carglumic Acid Contributes to a Favorable Clinical Course in a Case of Severe Propionic Acidemia;Case Reports in Pediatrics;2020-03-09

3. Evaluation of Metabolic Defects in Fatty Acid Oxidation Using Peripheral Blood Mononuclear Cells Loaded with Deuterium-Labeled Fatty Acids;Disease Markers;2019-02-07

4. Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency;Journal of Human Genetics;2018-11-06

5. Loss of the Mitochondrial Fatty Acid β-Oxidation Protein Medium-Chain Acyl-Coenzyme A Dehydrogenase Disrupts Oxidative Phosphorylation Protein Complex Stability and Function;Scientific Reports;2018-01-09