SWAN

当院における小児新型コロナウイルス感染症入院例の臨床像の検討

Creator	TSUKAMOTO Kazuki \| MASUKANE Seiya \| WADA Keisuke \| Taketani Takeshi
Journal	島根医学 Volume 43 Issue 1 pp. 40 - 45
Date of Issued	published_at 2023-04-30

Clinical and molecular features of patients with COL1-related disorders: Implications for the wider spectrum and the risk of vascular complications

Creator	Ryojun Takeda 1 2 3, Tomomi Yamaguchi 1 4 5, Shujiro Hayashi 6, Shinichirou Sano 7, Hiroshi Kawame 8 9 10, Sachiko Kanki 11, Takeshi Taketani 12, Hidekane Yoshimura 13, Yukio Nakamura 14, Tomoki Kosho 1 2 4 5 15 \| Taketani Takeshi
Journal	The American Journal of Medical Genetics - Part A (AJMG) Volume 188 Issue 9 pp. 2560 - 2575
Date of Issued	published_at 2022-07-13

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

ACTH-independent Cushing's syndrome due to ectopic endocrinologically functional adrenal tissue caused by a GNAS heterozygous mutation: a rare case of McCune-Albright syndrome accompanied by central amenorrhea and hypothyroidism: a case report and literature review

Creator	TAKEDANI Kai \| Yamamoto Masahiro \| Tanaka Sayuri \| ISHIHARA Shinichiro \| Taketani Takeshi \| KANASAKI Keizo
Journal	Frontiers in endocrinology
Date of Issued	published_at 2022-07-25

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

Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency

Creator	Kanazawa N, Hemmi H, Kinjo N, Ohnishi H, Hamazaki J, Mishima H, Kinoshita A, Mizushima T, Hamada S, Hamada K, Kawamoto N, Kadowaki S, Honda Y, Izawa K, Nishikomori R, Tsumura M, Yamashita Y, Tamura S, Orimo T, Ozasa T, Kato T, Sasaki I, Fukuda-Ohta Y, Wakaki-Nishiyama N, Inaba Y, Kunimoto K, Okada S, Taketani T, Nakanishi K, Murata S, Yoshiura KI, Kaisho T. \| Taketani Takeshi
Journal	Nature communications Volume 12 Issue 1
Date of Issued	published_at 2021-11-24

The feasibility of Gazefinder under 12 months of age infants

Creator	Shuntaro Fukushima \| Tomoo Takahashi \| Tsukamoto Kazuki \| Matsumura Misaki \| Takigawa Ryo \| Sakai Yasuo \| MANIWA Kyohei \| MURPHY LYNNE \| Taketani Takeshi
Journal	Scientific Reports Volume 11
Date of Issued	published_at 2021-05-11

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

An Adolescent Case With Ewing Sarcoma of the Kidney

Creator	KAJI Sarasa \| KANAI Rie \| OYAMA Chigusa \| NAKASHIMA Shigeki \| TSUKAMOTO Kazuki \| MANAKO Junko \| ISHIBASHI Shuichi \| OHKURA Takahiro \| Kumori Kouji \| Tajima Shinji \| MURPHY Lynne \| Taketani Takeshi
Journal	Shimane Journal of Medical Science Volume 38 Issue 4 pp. 131 - 137
Date of Issued	published_at 2021-12

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

溺水したてんかん児2例～てんかん関連死を防ぐための対策～

Creator	ツカモトカズキ \| TAKIGAWA Ryo \| Taketani Takeshi
Journal	島根医学 Volume 40 Issue 2 pp. 53 - 56
Date of Issued	published_at 2020-12

当院における運転免許臨時適性検査（てんかん）の現状と今後の課題

Creator	ツカモトカズキ \| 美根潤 \| Taketani Takeshi
Journal	島根医学 Volume 40 Issue 1 pp. 28 - 31
Date of Issued	published_at 2020

A pediatric case of food-dependent exercise-induced anaphylaxis due to rice bran

Creator	HANEDA Yasuhiro \| Kadowaki Saori \| FURUI Midori \| Taketani Takeshi
Journal	Asia Pacific allergy Volume 11 Issue 1
Date of Issued	published_at 2021-01-21

Nationwide study of pediatric B-cell precursor acute lymphoblastic leukemia with chromosome 8q24/MYC rearrangement in Japan

Creator	Sakaguchi Kimiyoshi \| Imamura Toshihiko \| Ishimaru Sae \| Imai, Chihaya \| Shimonodan Hidemi \| Fujita Naoto \| Okada Keiko \| Taketani Takeshi \| KANAI Rie \| Tauchi Hisamichi \| Kato Motohiro \| Kojima Yasuko \| Watanabe Arata \| Deguchi Takao \| Hashii Yoshiko \| Kiyokawa Nobutaka \| Taki Tomohiko \| Saito Akiko M. \| Horibe Keizo \| Manabe Atsushi \| Sato Atsushi \| Koh Katsuyoshi
Journal	Pediatric blood & cancer Volume 67 Issue 7
Date of Issued	published_at 2020-04-23

Diffuse and multifocal nephrogenic adenoma with Familial Mediterranean Fever: a case report with molecular study

Creator	ISHIKAWA Noriyoshi \| Amano Chika \| Taketani Takeshi \| Kumori Kouji \| Harada Yuji \| Hiraiwa Hisayuki \| Itamura Kayoko \| Maruyama Riruke
Journal	DIAGNOSTIC PATHOLOGY Volume 10
Date of Issued	published_at 2015-07-16

Internal Tandem Duplication in FLT3 Attenuates Proliferation and Regulates Resistance to the FLT3 Inhibitor AC220 by Modulating p21(Cdkn1a) and Pbx1 in Hematopoietic Cells

Creator	Abe Mariko \| Pelus Louis M. \| Singh Pratibha \| Hirade Tomohiro \| ONISHI Chie \| Purevsuren Jamiyan \| Taketani Takeshi \| Yamaguchi Seiji \| FUKUDA Seiji
Journal	PLOS ONE Volume 11 Issue 7
Date of Issued	published_at 2016-07-7

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

Effects of Yang-warming and Fluid Retention-resolving Method on the Expression of PI3K-Akt Pathway and Related Apoptotic Proteins in Chronic Heart Failure Rats

Creator	JIAHAO Yang \| Taketani Takeshi \| JIANHU Xu \| LU Liu \| RUIQIN Cui
Journal	Shimane Journal of Medical Science Volume 38 Issue 1 pp. 13 - 22
Date of Issued	published_at 2021-03

Genomic analysis-integrated whole-exome sequencing of neuroblastomas identifies genetic mutations in axon guidance pathway

Creator	Li Yuanyuan \| Ohira Miki \| Zhou Yong \| Xiong Teng \| Luo Wen \| Yang Chao \| Li Xiangchun \| Gao Zhibo \| Zhou Rui \| Nakamura Yohko \| Kamijo Takehiko \| Kaneko Yasuhiko \| Taketani Takeshi \| Ueyama Junichi \| Tajiri Tatsuro \| Zhang Hongyan \| Wang Jian \| Yang Huanming \| Yin Ye \| Nakagawara Akira
Journal	ONCOTARGET Volume 8 Issue 34 pp. 56684 - 56697
Date of Issued	published_at 2017-08-22

Sacrococcygeal teratoma with spinal canal invasion

Creator	Ishibashi Shuichi \| Tajima Shinji \| Nakada Soichi \| Ota Yoko \| MANAKO Junko \| AGO Mako \| SHIBATA Naoaki \| Taketani Takeshi \| Kumori Kouji
Journal	JOURNAL OF PEDIATRIC SURGERY CASE REPORTS Volume 32 pp. 1 - 4
Date of Issued	published_at 2018-05

Japanese nationwide survey of hypophosphatasia reveals prominent differences in genetic and dental findings between odonto and non-odonto types

Creator	Okawa Rena \| Kokomoto Kazuma \| Kitaoka Taichi \| Kubota Takuo \| Watanabe Atsushi \| Taketani Takeshi \| Michigami Toshimi \| Ozono Keiichi \| Nakano Kazuhiko
Journal	PLOS ONE Volume 14 Issue 10
Date of Issued	published_at 2019-10-10

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

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

Clinical Application to Hematological Diseases of Mesenchymal Stem Cells

Creator	OYAMA Chigusa \| Taketani Takeshi
Journal	Shimane Journal of Medical Science Volume 36 Issue 1 pp. 1 - 10
Date of Issued	published_at 2019-06

Metabolic Survey of Hidden Inherited Metabolic Diseases in Children With Apparent Life-Threatening Event(ALTE)or Sudden Unexpected Death in Infancy(SUDI)by Analyses of Organic Acids and Acylcarnitines Using Mass Spectrometries

Creator	Takahashi Tomoo \| Hasegawa Yuki \| Yamada Kenji \| Bo Ryosuke \| Kobayashi Hironori \| Taketani Takeshi \| Fukuda Seiji \| Yamaguchi Seiji
Journal	Shimane journal of medical science Volume 32 Issue 2 pp. 61 - 68
Date of Issued	published_at 2016

Anti-glomerular basement membrane antibody associated with human parvovirus B19 infection

Creator	Horie Akiyoshi \| Yotsumoto Yuka \| Taketani Takeshi \| Kumori Kouji \| Yamaguchi Seiji
Journal	Shimane journal of medical science Volume 24 pp. 43 - 46
Date of Issued	published_at 2007-12-01

Taketani Takeshi