How to Register

KOBAYASHI Hironori

id (desc)

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

Free Carnitine Levels During Cardiac Peri-Operative Periods with Cardiopulmonary Bypass in Pediatric Patients with Congenital Heart Diseases—Secondary Publication

Creator	Tanabe Yuka \| Yamada Kenji \| NAKASHIMA Shigeki \| YASUDA Kenji \| TACHI Maiko \| Fujimoto Yoshifumi \| Kobayashi Hironori \| Taketani Takeshi
Journal	Journal of Pediatric Cardiology and Cardiac Surgery Volume 7 Issue 1 pp. 18 - 26
Date of Issued	published_at 2023-06-30

Glycosaminoglycans as Biomarkers for Mucopolysaccharidoses and Other Disorders

Creator	Paige C. Amendum \| Shaukat Khan \| Yamaguchi Seiji \| Kobayashi Hironori \| Ago Yasuhiko \| Suzuki Yasuyuki \| Betul Celik \| Estera Rintz \| Jobayer Hossain \| Wendi Xiao \| Tomatsu Shunji
Journal	Diagnostics Volume 11 Issue 9
Date of Issued	published_at 2021-08-28

Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans

Creator	Nivethitha Arunkumar et al. \| Kobayashi Hironori \| OGUNI Tsubasa \| Taketani Takeshi
Journal	Diagnostics (Basel) Volume 11 Issue 8
Date of Issued	published_at 2021-07-27

Rapid identification of plasmalogen molecular species using targeted multiplexed selected reaction monitoring mass spectrometry

Creator	Abul Kalam Azad \| Kobayashi Hironori \| Abdullah Mohammed Sheikh \| Osago Harumi \| SAKAI Hiromichi \| Md. Ahsanul Haque \| Yano Shozo \| NAGAI Atsushi
Journal	Journal of Mass Spectrometry and Advances in the Clinical Lab Volume 22 pp. 26 - 33
Date of Issued	published_at 2021-10-15

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

Biomarkers in patients with mucopolysaccharidosis type II and IV

Creator	Fujitsuka Honoka \| Sawamoto Kazuki \| Peracha Hira \| Mason Robert W. \| Mackenzie William \| Kobayashi Hironori \| Yamaguchi Seiji \| Suzuki Yasuyuki \| Orii Kenji \| Orii Tadao \| Fukao Toshiyuki \| Tomatsu Shunji
Journal	MOLECULAR GENETICS AND METABOLISM REPORTS Volume 19
Date of Issued	published_at 2019-06

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

Blood carnitine profiling on tandem mass spectrometry in liver cirrhotic patients

Creator	Miyaaki Hisamitsu \| Kobayashi Hironori \| Miuma Satoshi \| Fukusima Masanori \| Sasaki Ryu \| Haraguchi Masafumi \| Nakao Kazuhiko
Journal	BMC GASTROENTEROLOGY Volume 20 Issue 1
Date of Issued	published_at 2020-02-19

Newborn screening for mucopolysaccharidoses: Measurement of glycosaminoglycans by LC-MS/MS

Creator	Stapleton Molly \| Kubaski Francyne \| Mason Robert W. \| Shintaku Haruo \| Kobayashi Hironori \| Yamaguchi Seiji \| Taketani Takeshi \| Suzuki Yasuyuki \| Orii Kenji \| Orii Tadao \| Fukao Toshiyuki \| Tomatsu Shunji
Journal	MOLECULAR GENETICS AND METABOLISM REPORTS Volume 22
Date of Issued	published_at 2020-03

Validation of Liquid Chromatography-Tandem Mass Spectrometry-Based 5-Plex Assay for Mucopolysaccharidoses

Creator	OGUNI Tsubasa \| Tomatsu Shunji \| Tanaka Misa \| Orii Kenji \| Fukao Toshiyuki \| Watanabe Jun \| FUKUDA Seiji \| Notsu Yoshitomo \| Dung Chi Vu \| Thi Bich Ngoc Can \| NAGAI Atsushi \| Yamaguchi Seiji \| Taketani Takeshi \| Gelb Michael H. \| Kobayashi Hironori
Journal	INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES Volume 21 Issue 6
Date of Issued	published_at 2020-03

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

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

山本先生の思い出

Creator	Kobayashi Hironori \| Fujita Youko \| Abe Miyuki \| Horikawa Yuri
Journal	島根大学社会福祉論集 Volume 2 pp. 101 - 104
Date of Issued	published_at 2008-03