Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation-Reference-Cited by-同舟云学术

Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation

Published:2016-12 Issue:4 Volume:119 Page:322-328
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Tajima Go^ORCID,Hara Keiichi,Tsumura Miyuki,Kagawa Reiko,Okada Satoshi,Sakura Nobuo,Hata Ikue,Shigematsu Yosuke,Kobayashi Masao

Funder

Japan Society for the Promotion of Science

Ministry of Health, Labour and Welfare of Japan

Japan Agency for Medical Research and Development

Morinaga Hoshi-Kai Foundation

Publisher

Elsevier BV

Subject

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

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4. Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency;Kelly;PNAS,1990

5. Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation;Yokota;J. Clin. Invest.,1990

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