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YAMADA Kenji

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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

Creator	YAMADA Kenji \| Osawa Yoshimitsu \| Kobayashi Hironori \| Bo Ryosuke \| Mushimoto Yuichi \| HASEGAWA Yuki \| Yamaguchi Seiji \| Taketani Takeshi
Journal	Molecular Genetics and Metabolism Reports Volume 33
Date of Issued	published_at 2022-11-14

Long-Term Neurological Outcomes of Adult Patients with Phenylketonuria before and after Newborn Screening in Japan

Creator	YAMADA Kenji \| Yamaguchi Seiji \| Yokoyama Kazunori \| Aoki Kikumaro \| Taketani Takeshi
Journal	International journal of neonatal screening Volume 7 Issue 2
Date of Issued	published_at 2021-04-14

Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening.

Creator	YAMADA Kenji \| Yokoyama Kazunori \| Aoki Kikumaro \| Taketani Takeshi \| Yamaguchi Seiji
Journal	International journal of neonatal screening Volume 6
Date of Issued

A fetus with mitochondrial trifunctional protein deficiency: Elevation of 3-OH-acylcarnitines in amniotic fluid functionally assured the genetic diagnosis

Creator	Bo Ryosuke \| HASEGAWA Yuki \| YAMADA Kenji \| Kobayashi Hironori \| Taketani Takeshi \| FUKUDA Seiji \| Yamaguchi Seiji
Journal	MOLECULAR GENETICS AND METABOLISM REPORTS Volume 6 pp. 1 - 4
Date of Issued	published_at 2016-03

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

Creator	YAMADA Kenji \| Bo Ryosuke \| Kobayashi Hironori \| HASEGAWA Yuki \| AGO Mako \| FUKUDA Seiji \| Yamaguchi Seiji \| Taketani Takeshi
Journal	MOLECULAR GENETICS AND METABOLISM REPORTS Volume 11 pp. 59 - 61
Date of Issued	published_at 2017-06

Two siblings with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency suffered from rhabdomyolysis after L-carnitine supplementation

Creator	Watanabe Kenji \| YAMADA Kenji \| Sameshima Koji \| Yamaguchi Seiji
Journal	MOLECULAR GENETICS AND METABOLISM REPORTS Volume 15 pp. 121 - 123
Date of Issued	published_at 2018-06

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

Creator	YAMADA Kenji \| Shiraishi Hideaki \| Oki Eishin \| Ishige Mika \| Fukao Toshiyuki \| Hamada Yusuke \| Sakai Norio \| Ochi Fumihiro \| Watanabe Asami \| Kawakami Sanae \| Kuzume Kazuyo \| Watanabe Kenji \| Sameshima Koji \| Nakamagoe Kiyotaka \| Tamaoka Akira \| Asahina Naoko \| Yokoshiki Saki \| Miyakoshi Takashi \| Ono Kota \| Oba Koji \| Isoe Toshiyuki \| Hayashi Hiroshi \| Yamaguchi Seiji \| Sato Norihiro
Journal	MOLECULAR GENETICS AND METABOLISM REPORTS Volume 15 pp. 55 - 63
Date of Issued	published_at 2018-06

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

Creator	Shiraishi Hideaki \| YAMADA Kenji \| Oki Eishin \| Ishige Mika \| Fukao Toshiyuki \| Hamada Yusuke \| Sakai Norio \| Ochi Fumihiro \| Watanabe Asami \| Kawakami Sanae \| Kuzume Kazuyo \| Watanabe Kenji \| Sameshima Koji \| Nakamagoe Kiyotaka \| Tamaoka Akira \| Asahina Naoko \| Yokoshiki Saki \| Miyakoshi Takashi \| Oba Koji \| Isoe Toshiyuki \| Hayashi Hiroshi \| Yamaguchi Seiji \| Sato Norihiro
Journal	MOLECULAR GENETICS AND METABOLISM REPORTS Volume 20
Date of Issued	published_at 2019-09

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

Creator	YAMADA Kenji \| Osawa Yoshimitsu \| Kobayashi Hironori \| HASEGAWA Yuki \| FUKUDA Seiji \| Yamaguchi Seiji \| Taketani Takeshi
Journal	MOLECULAR GENETICS AND METABOLISM REPORTS Volume 21
Date of Issued	published_at 2019-12

Need for strict clinical management of patients with carnitine palmitoyltransferase II deficiency: Experience with two cases detected by expanded newborn screening

Creator	BO Ryosuke \| Musha Ikuma \| YAMADA Kenji \| Kobayashi Hironori \| HASEGAWA Yuki \| Awano Hiroyuki \| Arao Masato \| Kikuchi Toru \| Taketani Takeshi \| Ohtake Akira \| Yamaguchi Seiji \| Iijima Kazumoto
Journal	MOLECULAR GENETICS AND METABOLISM REPORTS Volume 24
Date of Issued	published_at 2020-09

Late-onset argininosuccinic aciduria associated with hyperammonemia triggered by influenza infection in an adolescent: A case report

Creator	Osawa Yoshimitsu \| Wada Aya \| Ohtsu Yoshiaki \| YAMADA Kenji \| Takizawa Takumi
Journal	MOLECULAR GENETICS AND METABOLISM REPORTS Volume 24
Date of Issued	published_at 2020-09

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

Creator	Shibata Naoaki \| Hasegawa Yuki \| YAMADA Kenji \| Kobayashi Hironori \| Purevsuren Jamiyan \| Yang Yanling \| Vu Chi Dung \| Nguyen Ngoc Khanh \| Ishwar C. Verma \| Sunita Bijarnia-Mahay \| Dong Hwan Lee \| Dau-Ming Niu \| Hoffmann Georg F. \| Shigematsu Yosuke \| Fukao Toshiyuki \| FUKUDA Seiji \| Taketani Takeshi \| Yamaguchi Seiji
Journal
Date of Issued	published_at 2019-03-22