Literature DB >> 27538624

A case of very-long-chain acyl-coenzyme A dehydrogenase deficiency with novel compound heterozygous mutations.

Fumiko Yamamoto1, Kiyotaka Nakamagoe2, Kenji Yamada3, Akiko Ishii1, Junichi Furuta4, Seiji Yamaguchi3, Akira Tamaoka1.   

Abstract

Entities:  

Keywords:  ACADVL gene; Acylcarnitine analysis; Adult onset; Rhabdomyolysis; Very long-chain acyl-coenzyme A dehydrogenase deficiency

Mesh：

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Year:  2016        PMID： 27538624     DOI： 10.1016/j.jns.2016.07.007

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


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  5 in total

Review 1.  Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency.

Authors:  Kenji Yamada; Takeshi Taketani
Journal:  J Hum Genet       Date:  2018-11-06       Impact factor: 3.172

2.  Serum C14:1/C12:1 ratio is a useful marker for differentiating affected patients with very long-chain acyl-CoA dehydrogenase deficiency from heterozygous carriers.

Authors:  Kenji Yamada; Yoshimitsu Osawa; Hironori Kobayashi; Yuki Hasegawa; Seiji Fukuda; Seiji Yamaguchi; Takeshi Taketani
Journal:  Mol Genet Metab Rep       Date:  2019-11-05

3.  Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations.

Authors:  Yasuhiro Fuseya; Takeyo Sakurai; Jun-Ichi Miyahara; Kei Sato; Seiji Kaji; Yoshihiko Saito; Makio Takahashi; Ichizo Nishino; Tokiko Fukuda; Hideo Sugie; Hirofumi Yamashita
Journal:  Intern Med       Date:  2020-07-14       Impact factor: 1.271

4.  Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan.

Authors:  Kenji Yamada; Hideaki Shiraishi; Eishin Oki; Mika Ishige; Toshiyuki Fukao; Yusuke Hamada; Norio Sakai; Fumihiro Ochi; Asami Watanabe; Sanae Kawakami; Kazuyo Kuzume; Kenji Watanabe; Koji Sameshima; Kiyotaka Nakamagoe; Akira Tamaoka; Naoko Asahina; Saki Yokoshiki; Takashi Miyakoshi; Kota Ono; Koji Oba; Toshiyuki Isoe; Hiroshi Hayashi; Seiji Yamaguchi; Norihiro Sato
Journal:  Mol Genet Metab Rep       Date:  2018-02-22

5.  Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan; 2nd report QOL survey.

Authors:  Hideaki Shiraishi; Kenji Yamada; Eishin Oki; Mika Ishige; Toshiyuki Fukao; Yusuke Hamada; Norio Sakai; Fumihiro Ochi; Asami Watanabe; Sanae Kawakami; Kazuyo Kuzume; Kenji Watanabe; Koji Sameshima; Kiyotaka Nakamagoe; Akira Tamaoka; Naoko Asahina; Saki Yokoshiki; Takashi Miyakoshi; Koji Oba; Toshiyuki Isoe; Hiroshi Hayashi; Seiji Yamaguchi; Norihiro Sato
Journal:  Mol Genet Metab Rep       Date:  2019-07-25
  5 in total

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