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HASEGAWA Yuki

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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

Prenatal diagnosis of methylmalonic aciduria by analysis of organic acids and total homocysteine in amniotic fluid

Creator	Yao Zhang \| Yang Yan-Ling \| HASEGAWA Yuki \| Yamaguchi Seiji \| Shi Chun-Yan \| Song Jin-Qing \| Sujan Sayami \| Ping Liu \| Rong Yan \| Dong Jin-Hua \| Jiong Qin
Journal	CHINESE MEDICAL JOURNAL Volume 121 Issue 3 pp. 216 - 219
Date of Issued	published_at 2008-02-5

Novel c.2216T > C (p.I739T) Mutation in Exon 13 and c.1481T > A (p.L494X) Mutation in Exon 8 of MUT Gene in a Female with Methylmalonic Acidemia

Creator	Imataka George \| Sakamoto Osamu \| Yamanouchi Hideo \| Yoshihara Shigemi \| HASEGAWA Yuki \| Tajima Go \| Arisaka Osamu
Journal	CELL BIOCHEMISTRY AND BIOPHYSICS Volume 67 Issue 1 pp. 185 - 187
Date of Issued	published_at 2013-09

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

The first Mongolian cases of phenylketonuria in selective screening of inborn errors of metabolism

Creator	Purevsuren Jamiyan \| Bolormaa Baasandai \| Narantsetseg Chogdon \| Batsolongo Renchindorj \| Enkhchimeg Ochirbat \| Bayalag Munkhuu \| HASEGAWA Yuki \| Shintaku Haruo \| Yamaguchi Seiji
Journal	MOLECULAR GENETICS AND METABOLISM REPORTS Volume 9 pp. 71 - 74
Date of Issued	published_at 2016-12

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

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