Earmas IR

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

著者	山田健治 \| Osawa Yoshimitsu \| 小林弘典 \| Bo Ryosuke \| Mushimoto Yuichi \| 長谷川有紀 \| 山口清次 \| 竹谷健
雑誌	Molecular Genetics and Metabolism Reports 33 巻
発行日	2022-11-14 発行

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

著者	山田健治 \| 山口清次 \| Yokoyama Kazunori \| Aoki Kikumaro \| 竹谷健
雑誌	International journal of neonatal screening 7 巻 2 号
発行日	2021-04-14 発行

Glycosaminoglycans as Biomarkers for Mucopolysaccharidoses and Other Disorders

著者	Paige C. Amendum \| Shaukat Khan \| 山口清次 \| 小林弘典 \| Ago Yasuhiko \| Suzuki Yasuyuki \| Betul Celik \| Estera Rintz \| Jobayer Hossain \| Wendi Xiao \| Tomatsu Shunji
雑誌	Diagnostics 11 巻 9 号
発行日	2021-08-28 発行

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

著者	山田健治 \| Yokoyama Kazunori \| Aoki Kikumaro \| 竹谷健 \| 山口清次
雑誌	International journal of neonatal screening 6 巻
発行日

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

著者	Yao Zhang \| Yang Yan-Ling \| 長谷川有紀 \| 山口清次 \| Shi Chun-Yan \| Song Jin-Qing \| Sujan Sayami \| Ping Liu \| Rong Yan \| Dong Jin-Hua \| Jiong Qin
雑誌	CHINESE MEDICAL JOURNAL 121 巻 3 号 pp. 216 - 219
発行日	2008-02-5 発行

Survivin mediates aberrant hematopoietic progenitor cell proliferation and acute leukemia in mice induced by internal tandem duplication of Flt3

著者	福田誠司 \| Singh Pratibha \| Moh Akira \| Abe Mariko \| Conway Edward M. \| Boswell H. Scott \| 山口清次 \| Fu Xin-Yuan \| Pelus Louis M.
雑誌	BLOOD 114 巻 2 号 pp. 394 - 403
発行日	2009-07-9 発行

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

著者	McHugh David M. S. \| Cameron Cynthia A. \| Abdenur Jose E. \| Abdulrahman Mahera \| Adair Ona \| Al Nuaimi Shahira Ahmed \| Ahlman Henrik \| Allen Jennifer J. \| Antonozzi Italo \| Archer Shaina \| Au Sylvia \| Auray-Blais Christiane \| Baker Mei \| Bamforth Fiona \| Beckmann Kinga \| Pino Gessi Bentz \| Berberich Stanton L. \| Binard Robert \| Boemer Francois \| Bonham Jim \| Breen Nancy N. \| Bryant Sandra C. \| Caggana Michele \| Caldwell S. Graham \| Camilot Marta \| Campbell Carlene \| Carducci Claudia \| Cariappa Rohit \| Carlisle Clover \| Caruso Ubaldo \| Cassanello Michela \| Miren Castilla Ane \| Castineiras Ramos Daisy E. \| Chakraborty Pranesh \| Chandrasekar Ram \| Ramos Alfredo Chardon \| Cheillan David \| Chien Yin-Hsiu \| Childs Thomas A. \| Chrastina Petr \| Sica Yuri Cleverthon \| Cocho de Juan Jose Angel \| Elena Colandre Maria \| Cornejo Espinoza Veronica \| Corso Gaetano \| Currier Robert \| Cyr Denis \| Czuczy Noemi \| D'Apolito Oceania \| Davis Tim \| de Sain-Van der Velden Monique G. \| Delgado Pecellin Carmen \| Di Gangi Iole Maria \| Di Stefano Cristina Maria \| Dotsikas Yannis \| Downing Melanie \| Downs Stephen M. \| Dy Bonifacio \| Dymerski Mark \| Rueda Inmaculada \| Elvers Bert \| Eaton Roger \| Eckerd Barbara M. \| El Mougy Fatma \| Eroh Sarah \| Espada Mercedes \| Evans Catherine \| Fawbush Sandy \| Fijolek Kristel F. \| Fisher Lawrence \| Franzson Leifur \| Frazier Dianne M. \| Garcia Luciana R. C. \| Garcia-Valdecasas Bermejo Maria Sierra \| Gavrilov Dimitar \| Gerace Rosemarie \| Giordano Giuseppe \| Irazabal Yolanda Gonzalez \| Greed Lawrence C. \| Grier Robert \| Grycki Elyse \| Gu Xuefan \| Gulamali-Majid Fizza \| Hagar Arthur F. \| Han Lianshu \| Hannon W. Harry \| Haslip Christa \| Hassan Fayza Abdelhamid \| He Miao \| Hietala Amy \| Himstedt Leslie \| Hoffman Gary L. \| Hoffman William \| Hoggatt Philis \| Hopkins Patrick V. \| Hougaard David M. \| Hughes Kerie \| Hunt Patricia R. \| Hwu Wuh-Liang \| Hynes June \| Ibarra-Gonzalez Isabel \| Ingham Cindy A. \| Ivanova Maria \| Jacox Ward B. \| John Catharine \| Johnson John P. \| Jonsson Jon J. \| Karg Eszter \| Kasper David \| Klopper Brenda \| Katakouzinos Dimitris \| Khneisser Issam \| Knoll Detlef \| Kobayashi Hirinori \| Koneski Ronald \| Kozich Viktor \| Kouapei Rasoul \| Kohlmueller Dirk \| Kremensky Ivo \| la Marca Giancarlo \| Lavochkin Marcia \| Lee Soo-Youn \| Lehotay Denis C. \| Lemes Aida \| Lepage Joyce \| Lesko Barbara \| Lewis Barry \| Lim Carol \| Linard Sharon \| Lindner Martin \| Lloyd-Puryear Michele A. \| Lorey Fred \| Loukas Yannis L. \| Luedtke Julie \| Maffitt Neil \| Magee J. Fergall \| Manning Adrienne \| Manos Shawn \| Marie Sandrine \| Hadachi Sonia Marchezi \| Marquardt Gregg \| Martin Stephen J. \| Matern Dietrich \| Gibson Stephanie K. Mayfield \| Mayne Philip \| McCallister Tonya D. \| McCann Mark \| McClure Julie \| McGill James J. \| McKeever Christine D. \| McNeilly Barbara \| Morrissey Mark A. \| Moutsatsou Paraskevi \| Mulcahy Eleanor A. \| Nikoloudis Dimitris \| Norgaard-Pedersen Bent \| Oglesbee Devin \| Oltarzewski Mariusz \| Ombrone Daniela \| Ojodu Jelili \| Papakonstantinou Vagelis \| Reoyo Sherly Pardo \| Park Hyung-Doo \| Pasquali Marzia \| Pasquini Elisabetta \| Patel Pallavi \| Pass Kenneth A. \| Peterson Colleen \| Pettersen Rolf D. \| Pitt James J. \| Poh Sherry \| Pollak Arnold \| Porter Cory \| Poston Philip A. \| Price Ricky W. \| Queijo Cecilia \| Quesada Jonessy \| Randell Edward \| Ranieri Enzo \| Raymond Kimiyo \| Reddic John E. \| Reuben Alejandra \| Ricciardi Charla \| Rinaldo Piero \| Rivera Jeff D. \| Roberts Alicia \| Rocha Hugo \| Roche Geraldine \| Greenberg Cheryl Rochman \| Egea Mellado Jose Maria \| Jess Juan-Fita Maria \| Ruiz Consuelo \| Ruoppolo Margherita \| Rutledge S. Lane \| Ryu Euijung \| Saban Christine \| Sahai Inderneel \| Salazar Garcia-Blanco Maria Isabel \| Santiago-Borrero Pedro \| Schenone Andrea \| Schoos Roland \| Schweitzer Barb \| Scott Patricia \| Seashore Margretta R. \| Seeterlin Mary A. \| Sesser David E. \| Sevier Darrin W. \| Shone Scott M. \| Sinclair Graham \| Skrinska Victor A. \| Stanley Eleanor L. \| Strovel Erin T. \| Jones April L. Studinski \| Sunny Sherlykutty \| Takats Zoltan \| Tanyalcin Tijen \| Teofoli Francesca \| Thompson J. Robert \| Tomashitis Kathy \| Domingos Mouseline Torquado \| Torres Jasmin \| Torres Rosario \| Tortorelli Silvia \| Turi Sandor \| Turner Kimberley \| Tzanakos Nick \| Valiente Alf G. \| Vallance Hillary \| Vela-Amieva Marcela \| Vilarinho Laura \| von Doebeln Ulrika \| Vincent Marie-Francoise \| Vorster B. Chris \| Watson Michael S. \| Webster Dianne \| Weiss Sheila \| Wilcken Bridget \| Wiley Veronica \| Williams Sharon K. \| Willis Sharon A. \| Woontner Michael \| Wright Katherine \| Yahyaoui Raquel \| 山口清次 \| Yssel Melissa \| Zakowicz Wendy M.
雑誌	GENETICS IN MEDICINE 13 巻 3 号 pp. 230 - 254
発行日	2011-03 発行

Detection of Novel Visible-Light Region Absorbance Peaks in the Urine after Alkalization in Patients with Alkaptonuria

著者	Tokuhara Yasunori \| Shukuya Kenichi \| Tanaka Masami \| Mouri Mariko \| Ohkawa Ryunosuke \| Fujishiro Midori \| Takahashi Tomoo \| Okubo Shigeo \| Yokota Hiromitsu \| Kurano Makoto \| Ikeda Hitoshi \| 山口清次 \| Inagaki Shinobu \| Ishige-Wada Mika \| Usui Hiromi \| Yatomi Yutaka \| Shimosawa Tatsuo
雑誌	PLOS ONE 9 巻 1 号
発行日	2014-01-23 発行

Acute myositis associated with concurrent infection of rotavirus and norovirus in a 2-year-old girl

著者	Yamamoto Kei \| 福田誠司 \| Mushimoto Yuichi \| Minami Noriaki \| 金井理恵 \| Tsukamoto Kazuki \| 山口清次
雑誌	PEDIATRIC REPORTS 7 巻 3 号 pp. 51 - 53
発行日	2015 発行

Chondroitin 6-sulfate as a novel biomarker for mucopolysaccharidosis IVA and VII

著者	Kubaski Francyne \| Shimada Tsutomu \| Tomatsu Shunji \| Yasuda Eriko \| Mason Robert W. \| Mackenzie William G. \| Shibata Yuniko \| Giugliani Roberto \| 山口清次 \| Suzuki Yasuyuki \| Orii Kenji \| Orii Tadao
雑誌	MOLECULAR GENETICS AND METABOLISM 114 巻 2 号 pp. S66 - S66
発行日	2015-02 発行

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

著者	Yamamoto Takuma \| Mishima Hiroyuki \| Mizukami Hajime \| Fukahori Yuki \| Umehara Takahiro \| Murase Takehiko \| Kobayashi Masamune \| Mori Shinjiro \| Nagai Tomonori \| Fukunaga Tatsushige \| 山口清次 \| Yoshiura Koh-Ichiro \| Ikematsu Kazuya
雑誌	MOLECULAR GENETICS AND METABOLISM REPORTS 5 巻 pp. 26 - 32
発行日	2015-12 発行

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

著者	Purevsuren Jamiyan \| Bolormaa Baasandai \| Narantsetseg Chogdon \| Batsolongo Renchindorj \| Enkhchimeg Ochirbat \| Bayalag Munkhuu \| 長谷川有紀 \| Shintaku Haruo \| 山口清次
雑誌	MOLECULAR GENETICS AND METABOLISM REPORTS 9 巻 pp. 71 - 74
発行日	2016-12 発行

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

著者	山田健治 \| Bo Ryosuke \| 小林弘典 \| 長谷川有紀 \| 吾郷真子 \| 福田誠司 \| 山口清次 \| 竹谷健
雑誌	MOLECULAR GENETICS AND METABOLISM REPORTS 11 巻 pp. 59 - 61
発行日	2017-06 発行

Mice with an Oncogenic HRAS Mutation are Resistant to High-Fat Diet-Induced Obesity and Exhibit Impaired Hepatic Energy Homeostasis

著者	Oba Daiju \| Inoue Shin-ichi \| Miyagawa-Tomita Sachiko \| Nakashima Yasumi \| Niihori Tetsuya \| 山口清次 \| Matsubara Yoichi \| Aoki Yoko
雑誌	EBIOMEDICINE 27 巻 pp. 138 - 150
発行日	2018-01 発行

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

著者	Watanabe Kenji \| 山田健治 \| Sameshima Koji \| 山口清次
雑誌	MOLECULAR GENETICS AND METABOLISM REPORTS 15 巻 pp. 121 - 123
発行日	2018-06 発行

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

著者	山田健治 \| 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 \| 山口清次 \| Sato Norihiro
雑誌	MOLECULAR GENETICS AND METABOLISM REPORTS 15 巻 pp. 55 - 63
発行日	2018-06 発行

Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing

著者	Bijarnia-Mahay Sunita \| Haberle Johannes \| Jalan Anil B. \| Puri Ratna Dua \| Kohli Sudha \| Kudalkar Ketki \| Rufenacht Veronique \| Gupta Deepti \| Maurya Deepshikha \| Verma Jyotsna \| Shigematsu Yosuke \| 山口清次 \| Saxena Renu \| Verma Ishwar C.
雑誌	ORPHANET JOURNAL OF RARE DISEASES 13 巻
発行日	2018-10-1 発行

Biomarkers in patients with mucopolysaccharidosis type II and IV

著者	Fujitsuka Honoka \| Sawamoto Kazuki \| Peracha Hira \| Mason Robert W. \| Mackenzie William \| 小林弘典 \| 山口清次 \| Suzuki Yasuyuki \| Orii Kenji \| Orii Tadao \| Fukao Toshiyuki \| Tomatsu Shunji
雑誌	MOLECULAR GENETICS AND METABOLISM REPORTS 19 巻
発行日	2019-06 発行

The utility of post-test newborn blood spot screening cards for epigenetic association analyses: association between HIF3A methylation and birth weight-for-gestational age

著者	Kyaw Tay Zar \| 山口清次 \| Imai Chihiro \| Uematsu Marina \| Sato Noriko
雑誌	JOURNAL OF HUMAN GENETICS 64 巻 8 号 pp. 795 - 801
発行日	2019-08 発行

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

著者	Shiraishi Hideaki \| 山田健治 \| 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 \| 山口清次 \| Sato Norihiro
雑誌	MOLECULAR GENETICS AND METABOLISM REPORTS 20 巻
発行日	2019-09 発行

Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency

著者	Abdelkreem Elsayed \| . \| 山口清次 \| Wierenga Rikkert K. \| Fukao Toshiyuki
雑誌	HUMAN MUTATION 40 巻 10 号 pp. 1641 - 1663
発行日	2019-10 発行

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

著者	山田健治 \| Osawa Yoshimitsu \| 小林弘典 \| 長谷川有紀 \| 福田誠司 \| 山口清次 \| 竹谷健
雑誌	MOLECULAR GENETICS AND METABOLISM REPORTS 21 巻
発行日	2019-12 発行

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

著者	Stapleton Molly \| Kubaski Francyne \| Mason Robert W. \| Shintaku Haruo \| 小林弘典 \| 山口清次 \| 竹谷健 \| Suzuki Yasuyuki \| Orii Kenji \| Orii Tadao \| Fukao Toshiyuki \| Tomatsu Shunji
雑誌	MOLECULAR GENETICS AND METABOLISM REPORTS 22 巻
発行日	2020-03 発行

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

著者	大國翼 \| Tomatsu Shunji \| Tanaka Misa \| Orii Kenji \| Fukao Toshiyuki \| Watanabe Jun \| 福田誠司 \| 野津吉友 \| Dung Chi Vu \| Thi Bich Ngoc Can \| 長井篤 \| 山口清次 \| 竹谷健 \| Gelb Michael H. \| 小林弘典
雑誌	INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES 21 巻 6 号
発行日	2020-03 発行

Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots

著者	Wijaya Yogik Onky Silvana \| Purevsuren Jamiyan \| Harahap Nur Imma Fatimah \| Niba Emma Tabe Eko \| Bouike Yoshihiro \| Nurputra Dian Kesumapramudya \| Rochmah Mawaddah Ar \| Thursina Cempaka \| Hapsara Sunartini \| 山口清次 \| Nishio Hisahide \| Shinohara Masakazu
雑誌	INTERNATIONAL JOURNAL OF NEONATAL SCREENING 6 巻 2 号
発行日	2020-06 発行

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

著者	坊亮輔 \| Musha Ikuma \| 山田健治 \| 小林弘典 \| 長谷川有紀 \| Awano Hiroyuki \| Arao Masato \| Kikuchi Toru \| 竹谷健 \| Ohtake Akira \| 山口清次 \| Iijima Kazumoto
雑誌	MOLECULAR GENETICS AND METABOLISM REPORTS 24 巻
発行日	2020-09 発行

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

著者	柴田直昭 \| Hasegawa Yuki \| 山田健治 \| 小林弘典 \| 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 \| 福田誠司 \| 竹谷健 \| 山口清次
雑誌
発行日	2019-03-22 発行

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

著者	高橋知男 \| 長谷川有紀 \| 山田健治 \| 坊亮輔 \| 小林弘典 \| 竹谷健 \| 福田誠司 \| 山口清次
雑誌	Shimane journal of medical science 32 巻 2 号 pp. 61 - 68
発行日	2016 発行

Pilot study on neonatal mass screening for inborn errors of metabolism by gas chromatography-mass spectrometry : eighteen months experience in Shimane Area

著者	Fu Xiao wei \| 木村正彦 \| 井上真 \| 伊賀三佐子 \| 長谷川清 \| 石岡千寛 \| 安田謙二 \| 宮崎康二 \| Tomotsuka Yoshito \| Tanowaki Tetsuo \| Takagi Junji \| Ito Toshio \| 楫野恭久 \| Ando Yukinori \| 山口清次
雑誌	Shimane journal of medical science 16 巻 1 号 pp. 23 - 27
発行日	1998-06-01 発行

Prenatal and postnatal evaluation of Dandy-Walker malformation : a case report

著者	田草雄一 \| 斎藤恭子 \| 瀬島斉 \| 木村正彦 \| 岸和子 \| 秦利之 \| 宮崎康二 \| 森竹浩三 \| 山口清次
雑誌	Shimane journal of medical science 16 巻 1 号 pp. 5 - 7
発行日	1998-06-01 発行

Brain holding spells in early infancy

著者	木村正彦 \| 領家由子 \| 宮本聡美 \| 井上真 \| 瀬島斉 \| 山口清次
雑誌	Shimane journal of medical science 15 巻 pp. 21 - 22
発行日	1997-09-01 発行

Clinical study of partial epilepsies occurring before two years of life

著者	瀬島斉 \| 伊藤正利 \| 田草雄一 \| 岸和子 \| 木村正彦 \| 若園明裕 \| 山口清次
雑誌	Shimane journal of medical science 15 巻 pp. 9 - 11
発行日	1997-09-01 発行

Nonimmunologic fetal hydrops and chromosomal disorder : two cases of Down syndrome associated with hematopoietic abnormalities

著者	増江道哉 \| 宮本聡美 \| 井上真 \| 羽根田紀幸 \| 秦利之 \| 宮崎康二 \| 長崎真琴 \| 森川茂 \| 山口清次
雑誌	Shimane journal of medical science 15 巻 pp. 5 - 7
発行日	1997-09-01 発行

A Boy With Necrotizing Fasciitis Diagnosed at an Early Stage

著者	田中直美 \| 南憲明 \| Mushimoto Yuichi \| 金井理恵 \| 山口清次 \| Higuchi Tsuyoshi \| 桑田卓 \| 内尾祐司
雑誌	Shimane journal of medical science 30 巻 1 号 pp. 47 - 52
発行日	2013-11-01 発行

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

著者	Horie Akiyoshi \| 四本由郁 \| 竹谷健 \| 久守孝司 \| 山口清次
雑誌	Shimane journal of medical science 24 巻 pp. 43 - 46
発行日	2007-12-01 発行

Molecular analysis of AVPR2 gene in a Japanese patient with X-linked nephrogenic diabetes insipidus, congenital heart disease and mental retardation

著者	Purevjav Enkhsaikhan \| Fu Xiaowei \| Haneda Noriyuki \| 木村正彦 \| Takusa Yuichi \| Uchiyama Atsushi \| 山口清次
雑誌	Shimane journal of medical science 20 巻 1 号 pp. 19 - 23
発行日	2002-06-01 発行

山口 清次

山口清次