The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening-Reference-Cited by-同舟云学术

The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening

Published:2022-05 Issue:1 Volume:136 Page:74-79
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Osawa Yoshimitsu,Kobayashi Hironori,Tajima Go,Hara Keiichi,Yamada Kenji,Fukuda Seiji,Hasegawa Yuki,Aisaki Junko,Yuasa Miori,Hata Ikue,Okada Satoshi,Shigematsu Yosuke,Sasai Hideo,Fukao Toshiyuki,Takizawa Takumi,Yamaguchi Seiji,Taketani Takeshi

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference26 articles.

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3. The diagnostic challenge in very-long chain acyl-CoA dehydrogenase deficiency (VLCADD);Hesse;J. Inherit. Metab. Dis.,2018

4. Mutation analysis in mitochondrial fatty acid oxidation defects: exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship;Gregersen;Hum. Mutat.,2001

5. MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency;Spiekerkoetter;J. Pediatr.,2003

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