Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in ETFDH, a common Japanese variant, causes a mortal phenotype-Reference-Cited by-同舟云学术

Clinical and molecular investigation of 37 Japanese patients with multiple acyl-CoA dehydrogenase deficiency: p.Y507D in ETFDH, a common Japanese variant, causes a mortal phenotype

Published:2022-12 Issue: Volume:33 Page:100940
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Yamada Kenji,Osawa Yoshimitsu,Kobayashi Hironori,Bo Ryosuke,Mushimoto Yuichi,Hasegawa Yuki,Yamaguchi Seiji,Taketani Takeshi

Funder

Japan Agency for Medical Research and Development

Japan Society for the Promotion of Science

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference38 articles.

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3. Deficiency of electron transfer flavoprotein or electron transfer flavoprotein:ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts proc;Frerman;Natl. Acad. Sci. U. S. A.,1985

4. Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications;Schulze;Pediatrics,2003

5. Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening;Shibata;Molecular genetics and metabolism reports,2018

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