Literature DB >> 17709715

A Japanese adult form of CPT II deficiency associated with a homozygous F383Y mutation.

J Aoki1, T Yasuno, H Sugie, H Kido, I Nishino, Y Shigematsu, M Kanazawa, M Takayanagi, M Kumami, K Endo, H Kaneoka, M Yamaguchi, T Fukuda, T Yamamoto.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2007        PMID： 17709715     DOI： 10.1212/01.wnl.0000267665.44477.85

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


× No keyword cloud information.
  3 in total

Review 1.  Carnitine palmitoyltransferase II deficiency with a focus on newborn screening.

Authors:  Go Tajima; Keiichi Hara; Miori Yuasa
Journal:  J Hum Genet       Date:  2018-12-04       Impact factor: 3.172

2.  Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders.

Authors:  Takuma Yamamoto; Hiroyuki Mishima; Hajime Mizukami; Yuki Fukahori; Takahiro Umehara; Takehiko Murase; Masamune Kobayashi; Shinjiro Mori; Tomonori Nagai; Tatsushige Fukunaga; Seiji Yamaguchi; Koh-Ichiro Yoshiura; Kazuya Ikematsu
Journal:  Mol Genet Metab Rep       Date:  2015-10-02

3.  A newborn case with carnitine palmitoyltransferase II deficiency initially judged as unaffected by acylcarnitine analysis soon after birth.

Authors:  Kenji Yamada; Ryosuke Bo; Hironori Kobayashi; Yuki Hasegawa; Mako Ago; Seiji Fukuda; Seiji Yamaguchi; Takeshi Taketani
Journal:  Mol Genet Metab Rep       Date:  2017-05-02
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.