Nakamura Kimitoshi 中村公俊

… Alternative Names

中村公俊ナカムラキミトシ

NAKAMURA KIMITOSHI 中村公俊

NAKAMURA Kimitoshi 中村公俊

Less

Researcher Number	30336234
Other IDs
Affiliation (Current)	2023: 熊本大学, 大学院生命科学研究部(医), 教授
Affiliation (based on the past Project Information) *help	2023: 熊本大学, その他の研究科, 教授 2017 – 2021: 熊本大学, 大学院生命科学研究部(医), 教授 2018: 熊本大学, 大学院生命科学研究部, 教授 2017: 熊本大学, 大学院生命科学研究部小児科学分野, 教授 2015: 熊本大学, 大学院生命科学研究部, 准教授 … More 2008 – 2013: Kumamoto University, 医学部附属病院, 講師 2007: Kumamoto University, University Hospital, Assistant 2002 – 2006: Kumamoto University School of Medicine Department of Hospital Assistant, 医学部附属病院, 助手 2001: 熊本大学, 医学部・附属病院, 助手 Less
Review Section/Research Field	Principal Investigator Pediatrics / Basic Section 52050:Embryonic medicine and pediatrics-related / Pediatrics Except Principal Investigator Pediatrics / Human genetics / Laboratory medicine / Human genetics
Keywords	Principal Investigator トランスジェニックマウス / 肝細胞 / カルシウム / カルシウムシグナル / メタボリックシンドローム / メタボリック症候群 / 幹細胞 / 内胚葉 / 内胚葉系幹細胞 / 生活習慣病 … More / 脂質代謝異常 / 新生児スクリーニング / calreticulin / cre recombinase / 心臓 / 発生 / ルタボリック症候群 / カルシウムシグナル / )内胚葉系幹細胞 / 心筋症 / 不整脈 / calcium / metabolic syndrome / dyslipidemia / transgenic mice / hepatocytes / Calcium Homeostasis / Metabolic Syndrome / Lipid Metabolism / Transgenic Mice / Hepatocytes / 低ホスファターゼ症 / スクリーニング / 酵素活性 / アルカリホスファターゼ / SMN蛋白 / qPCR / 脊髄性筋萎縮症 / ELISA法 … More Except Principal Investigator 糖尿病 / アポトーシス / 細胞移植 / 幹細胞 / 内胚葉 / 遺伝性疾患 / 肝臓 / liver failure / amino acid metabolism / enzyme defect / cancer / mouse model / apoptosis / 発癌 / DNAチップ / ポンペ病 / 新生児マススクリーニング / 遺伝子多型 / リソソーム病 / Ⅱ型糖原病 / 酸性マルターゼ / 血液濾紙 / 新生児スクリーニング / 酸性α－グルコシダーゼ / iPS細胞 / 再生医学 / 移植・再生医療 / 発生・分化 / バイオテクノロジー / 幹分離法 / 内胚葉幹細胞 / 唾液腺 / 膵臓 / 発ガン / 遺伝子チップ現 / 肝細胞 / 遺伝子発現 / 遺伝子チップ / 遺伝子治療 / hepatocyte / stem cell / liver injury / regenerative medicine / genetics / amino acid / metabolic disease / ライソソーム病 / 酸性α-グルコシダーゼ / ハイリスクスクリーニング / 神経・筋疾患 / ポンペ症 / II型糖原病 / ポンぺ病 / 血液露紙 / 先天代謝異常症 / ライソーム病 / 神経幹細胞 / IPS細胞 / ゴーシェ病 / Neuron / ゴーシェー病 / ニューロン / Neural stem cell / 神経型ゴーシェー病 / GlcSph / LAMP1 / Gaucher disease / 治療薬開発 / 小児糖尿病 / エネルギー代謝 / 1型糖尿病 / β細胞 / 再生医療 / バイオマーカー / 細胞内代謝機能 / メタボローム解析 / ライソゾーム病 / 乾燥血液濾紙 / Ⅱ糖原病 / common mutation / スプライス異常 Less

脊髄性筋萎縮症とポンペ病の遺伝子解析とELISA法を用いた早期診断治療体制の確立Principal Investigator
- Principal Investigator
  
  中村公俊
- Project Period (FY)
  2023 – 2025
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Kumamoto University
濾紙血中のSMNタンパク測定による脊髄性筋萎縮症の新生児スクリーニングPrincipal Investigator
- Principal Investigator
  
  中村公俊
- Project Period (FY)
  2020 – 2022
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Kumamoto University
Development of novel medicine using iPS cells derived from Gaucher disease type II patients
- Principal Investigator
  
  Kido Jun
- Project Period (FY)
  2017 – 2019
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Kumamoto University
Newborn Screening for HypophosphatasiaPrincipal Investigator
- Principal Investigator
  
  Nakamura Kimitoshi
- Project Period (FY)
  2017 – 2019
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Kumamoto University
Prediction of DiabetesMellitus by using with iPS cell technology
- Principal Investigator
  
  MATSUMOTO SHIROU
- Project Period (FY)
  2015 – 2017
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Kumamoto University
Newborn screening and high risk screening for Pompe disease in Japan
- Principal Investigator
  
  Okumiya Toshika
- Project Period (FY)
  2015 – 2018
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Laboratory medicine
- Research Institution
  Kumamoto University
Role of calcium signaling on the endodermal stem cells in the metabolic syndrom from childhood.Principal Investigator
- Principal Investigator
  
  NAKAMURA Kimitoshi
- Project Period (FY)
  2011 – 2013
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Kumamoto University
The effect of the Asian-specific polymorphisms on newborn screening of Pompe disease and new diagnostic approaches for the disease.
- Principal Investigator
  
  Okumiya Toshika
- Project Period (FY)
  2011 – 2015
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Laboratory medicine
- Research Institution
  Kumamoto University
Evaluation system for regenerative medicine of genetic disorders by using cloned pigs established from endoderm somatic stem cells
- Principal Investigator
  
  ENDO Fumio
- Project Period (FY)
  2010 – 2012
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Pediatrics
- Research Institution
  Kumamoto University
Role of calcium signaling on the hepatic and pancreatic stem cells in the animal model of metabolic syndrome during childhood.Principal Investigator
- Principal Investigator
  
  NAKAMURA Kimitoshi
- Project Period (FY)
  2008 – 2010
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Kumamoto University
The Role of Calcium Signaling in the Metabolic Syndrome during Childhood OnsetPrincipal Investigator
- Principal Investigator
  
  NAKAMURA Kimitoshi
- Project Period (FY)
  2006 – 2007
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Kumamoto University
Roles and regulation of endoderm stem cells in hereditary liver disease
- Principal Investigator
  
  ENDO Fumio
- Project Period (FY)
  2005 – 2006
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Human genetics
- Research Institution
  Kumamoto University
Role of calcium signals for metabolic syndromes in children.Principal Investigator
- Principal Investigator
  
  NAKAMURA Kimitoshi
- Project Period (FY)
  2004 – 2005
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Kumamoto University
A Role of somatic stem cells in pathogenesis and treatments of hereditary hepatic disorders.
- Principal Investigator
  
  ENDO Fumio
- Project Period (FY)
  2003 – 2004
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Human genetics
- Research Institution
  Kumamoto University
小児心疾患におけるカルシウムシグナルの役割Principal Investigator
- Principal Investigator
  
  中村公俊
- Project Period (FY)
  2002 – 2003
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Kumamoto University
Studies on mechanisms for apoptosis and carcinogenessis, and stam cell transplantation in hereditary liver diseases.
- Principal Investigator
  
  ENDO Fumio
- Project Period (FY)
  2001 – 2002
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Human genetics
- Research Institution
  Kumamoto University

[Book] 尿素サイクル異常症　小児疾患の診断治療基準　第4版　小児内科　第44巻増刊号2012
- Author(s)
  中村公俊
- Total Pages
  1132
- Publisher
  東京医学社 (2012)
- Data Source
  KAKENHI-PROJECT-23591504
[Journal Article] Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan.2022
- Author(s)
  Kido J, Haberle J, Sugawara K, Tanaka T, Nagao M, Sawada T, Wada Y, Numakura C, Murayama K, Watanabe Y, Kojima-Ishii K, Sasai H, Kosugiyama K, Nakamura K.
- Journal Title
  
  J Inherit Metab Dis.
  
  Volume: none
- DOI
  10.1002/jimd.12483
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08207, KAKENHI-PROJECT-20K08259
[Journal Article] Newborn screening for Gaucher disease in Japan.2022
- Author(s)
  Sawada T, Kido J, Sugawara K, Yoshida S, Matsumoto S, Shimazu T, Matsushita Y, Inoue T, Hirose S, Endo F, Nakamura K.
- Journal Title
  
  Mol Genet Metab Rep.
  
  Volume: 31 Pages: 100850-100850
- DOI
  10.1016/j.ymgmr.2022.100850
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08207, KAKENHI-PROJECT-20K08259
[Journal Article] Severe metabolic acidosis with cardiac involvement in DNM1L-related mitochondrial encephalopathy.2022
- Author(s)
  Kinoshita Y, Momosaki K, Matsumoto S, Murayama K, Nakamura K
- Journal Title
  
  Pediatr Int.
  
  Volume: 64(1)
- DOI
  10.1111/ped.14879
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K08259
[Journal Article] The Predictive Value of Procalcitonin and High-Sensitivity C-Reactive Protein for Early Bacterial Infections in Preterm Neonates.2021
- Author(s)
  Naramura T, Imamura H, Yoshimatsu H, Hirashima K, Irie S, Inoue T, Tanaka K, Mitsubuchi H, Nakamura K, Iwai M
- Journal Title
  
  Neonatology
  
  Volume: 118(1) Pages: 28-36
- DOI
  10.1159/000512523
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K08259
[Journal Article] Hyperprolinemia type I caused by homozygous p.T466M mutation in PRODH.2021
- Author(s)
  Hama R, Kido J, Sugawara K, Nakamura T, Nakamura K
- Journal Title
  
  Hum Genome
  
  Volume: 8(1)
- DOI
  10.1038/s41439-021-00159-5
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K08259
[Journal Article] Current status of newborn screening for Pompe disease in Japan.2021
- Author(s)
  Sawada T, Kido J*, Sugawara K, Momosaki K, Yoshida S, Kojima-Ishii K, Inoue T, Matsumoto S, Endo F, Ohga S, Hirose S, Nakamura K.
- Journal Title
  
  Orphanet J Rare Dis
  
  Volume: 18 Pages: 516-516
- DOI
  10.1186/s13023-021-02146-z
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08207, KAKENHI-PROJECT-20K08259
[Journal Article] Characteristics of Neurological Symptoms in Adult Japanese Patients with Fabry Disease2021
- Author(s)
  Sawada Jun、Nakagawa Naoki、Kano Kohei、Saito Tsukasa、Katayama Takayuki、Sawada Takaaki、Momosaki Ken、Nakamura Kimitoshi、Hasebe Naoyuki
- Journal Title
  
  Internal Medicine
  
  Volume: 60 Issue: 12 Pages: 1819-1826
- DOI
  10.2169/internalmedicine.6420-20
- NAID
  130008052662
- ISSN
  0918-2918, 1349-7235
- Language
  English
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K08093, KAKENHI-PROJECT-20K08259, KAKENHI-PROJECT-21K08021
[Journal Article] Fabry disease screening in high-risk populations in Japan: a nationwide study2020
- Author(s)
  Yoshida S, Kido J, Sawada T, Momosaki K, Sugawara K, Matsumoto S, Endo F, Nakamura K.
- Journal Title
  
  Orphanet Journal of Rare Diseases
  
  Volume: 15 Pages: 220-220
- DOI
  10.1186/s13023-020-01494-6
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08207, KAKENHI-PROJECT-20K08259
[Journal Article] Newborn Screening for Pompe Disease2020
- Author(s)
  Sawada Takaaki、Kido Jun、Nakamura Kimitoshi
- Journal Title
  
  International Journal of Neonatal Screening
  
  Volume: 6 Pages: 31-31
- DOI
  10.3390/ijns6020031
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K08259
[Journal Article] Pharmacokinetics and pharmacodynamics of JR-051, a biosimilar of agalsidase beta, in healthy adults and patients with Fabry disease: Phase I and II/III clinical studies2020
- Author(s)
  Nakamura Kimitoshi、Kawashima Satoshi、Tozawa Hirotaka、Yamaoka Mariko、Yamamoto Tatsuyoshi、Tanaka Noboru、Yamamoto Ryuji、Okuyama Torayuki、Eto Yoshikatsu
- Journal Title
  
  Molecular Genetics and Metabolism
  
  Volume: 130 Pages: 215-224
- DOI
  10.1016/j.ymgme.2020.04.003
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K08259
[Journal Article] Newborn screening for Fabry disease in the western region of Japan2020
- Author(s)
  Sawada T, Kido J, Yoshida S, Sugawara K, Momosaki K, Inoue T, Tajima G, Sawada H, Mastumoto S, Endo F, Hirose S, Nakamura K.
- Journal Title
  
  Molecular Genetics and Metabolism Reports
  
  Volume: 22 Pages: 100562-100562
- DOI
  10.1016/j.ymgmr.2019.100562
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10054, KAKENHI-PROJECT-17K10055, KAKENHI-PROJECT-20K08259
[Journal Article] Detection of novel Fabry disease‐associated pathogenic variants in Japanese patients by newborn and high‐risk screening2020
- Author(s)
  Sawada T, Kido J, Sugawara K, Matsumoto S, Takada F, Tsuboi K, Ohtake A, Endo F, Nakamura K.
- Journal Title
  
  Molecular Genetics & Genomic Medicine
  
  Volume: 11
- DOI
  10.1002/mgg3.1502
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08207, KAKENHI-PROJECT-20K08259
[Journal Article] Role of induced pluripotent stem cells in lysosomal storage diseases2020
- Author(s)
  Kido J, Nakamura K, Era T.
- Journal Title
  
  Molecular and Cellular Neuroscience
  
  Volume: 108 Pages: 103540-103540
- DOI
  10.1016/j.mcn.2020.103540
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-20K08207, KAKENHI-PROJECT-20K08259
[Journal Article] Carglumic Acid Contributes to a Favorable Clinical Course in a Case of Severe Propionic Acidemia2020
- Author(s)
  Kido Jun、Matsumoto Shirou、Nakamura Kimitoshi
- Journal Title
  
  Case Reports in Pediatrics
  
  Volume: 2020 Pages: 1-5
- DOI
  10.1155/2020/4709548
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10055
[Journal Article] Urea cycle disorders?update2019
- Author(s)
  Matsumoto Shirou、Ha?berle Johannes、Kido Jun、Mitsubuchi Hiroshi、Endo Fumio、Nakamura Kimitoshi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 64 Pages: 833-847
- DOI
  10.1038/s10038-019-0614-4
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10055
[Journal Article] Associations among amino acid, lipid, and glucose metabolic profiles in childhood obesity.2019
- Author(s)
  Suzuki Y, Kido J, Matsumoto S, Shimizu K, Nakamura K.
- Journal Title
  
  BMC Pediatr.
  
  Volume: 19 Pages: 273-273
- DOI
  10.1186/s12887-019-1647-8
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10054
[Journal Article] Newborn screening for Pompe disease in Japan : report and literature review of mutations in the GAA gene in Japanese and Asian patients.2019
- Author(s)
  Momosaki K, Kido J, Yoshida S, Sugawara K, Miyamoto T, Inoue T, Okumiya T, Matsumoto S, Endo F, Hirose S, Nakamura K.
- Journal Title
  
  J Hum Genet.
  
  Volume: 64 Issue: 8 Pages: 741-755
- DOI
  10.1038/s10038-019-0603-7
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10054, KAKENHI-PROJECT-17K10055, KAKENHI-PROJECT-16H06276
[Journal Article] Neonatal methionine adenosyltransferase I/III deficiency with abnormal signal intensity in the central tegmental tract2019
- Author(s)
  Kido Jun、Sawada Takaaki、Momosaki Ken、Suzuki Yosuke、Uetani Hiroyuki、Kitajima Mika、Mitsubuchi Hiroshi、Nakamura Kimitoshi、Matsumoto Shirou
- Journal Title
  
  Brain and Development
  
  Volume: 41 Pages: 382-388
- DOI
  10.1016/j.braindev.2018.10.010
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10055
[Journal Article] Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients2019
- Author(s)
  Jun Kido, Ken Momosaki, Shinichiro Yoshida, Keishin Sugawara, Tatsuki Miyamoto, Takahito Inoue, Toshika Okumiya, Shirou Matsumoto, Fumio endo, Shinichi Hirose, and Kimitoshi Nakamura
- Journal Title
  
  Journal of Human Geneticis
  
  Volume: 印刷中
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K08619
[Journal Article] Rhabdomyolysis in organic acidemia patients manifesting with metabolic decompensation.2019
- Author(s)
  Kido J, Matsumoto S, Sawada T, Endo F, Nakamura K.
- Journal Title
  
  Hemodial Int.
  
  Volume: 23
- DOI
  10.1111/hdi.12778
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10054
[Journal Article] LSD1 mediates metabolic reprogramming by glucocorticoids during myogenic differentiation.2018
- Author(s)
  K. Anan, S. Hino, N. Shimizu, A. Sakamoto, K. Nagaoka, R. Takase, K. Kohrogi, H. Araki, Y. Hino, S. Usuki, S. Oki, H. Tanaka, K. Nakamura, F. Endo, and M. Nakao
- Journal Title
  
  Nucleic Acids Research
  
  Volume: 18 Pages: 5441-5454
- DOI
  10.1093/nar/gky234
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-15H04707, KAKENHI-PROJECT-17K09876, KAKENHI-PROJECT-15KK0332, KAKENHI-PROJECT-18KT0017, KAKENHI-PROJECT-17K10055, KAKENHI-PROJECT-18K19479, KAKENHI-PROJECT-16H05330, KAKENHI-PROJECT-18H02618, KAKENHI-PROJECT-16K07215
[Journal Article] Recovery of severe acute liver failure without transplantation in patients with Wilson disease2018
- Author(s)
  Kido Jun、Matsumoto Shirou、Sakamoto Rieko、Mitsubuchi Hiroshi、Inomata Yukihiro、Nakamura Kimitoshi
- Journal Title
  
  Pediatric Transplantation
  
  Volume: 22
- DOI
  10.1111/petr.13292
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10055
[Journal Article] High-risk screening for Gaucher disease in patients with neurological symptoms2018
- Author(s)
  Momosaki K, Kido J, Matsumoto S, Yoshida S, Takei A, Miyabayashi T, Sugawara K, Endo F, Nakamura K.
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 63 Pages: 717-721
- DOI
  10.1038/s10038-018-0438-7
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10054, KAKENHI-PROJECT-17K10055
[Journal Article] Mulberries in the urine: a tell-tale sign of Fabry disease2018
- Author(s)
  Chong Pin Fee、Nakamura Kimitoshi、Kira Ryutaro
- Journal Title
  
  Journal of Inherited Metabolic Disease
  
  Volume: 41 Pages: 745-746
- DOI
  10.1007/s10545-018-0155-6
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10055
[Journal Article] A Significant Difference in the Blood Carnitine Values Obtained by the Enzymatic Cycling and Tandem Mass Spectrometry Methods2018
- Author(s)
  Kido J, Inoue H, Suzuki Y, Tanaka M, Mitsubuchi H, Nakamura K, Endo F, Matsumoto S.
- Journal Title
  
  Clinical Laboratory
  
  Volume: 64(1) Pages: 211-215
- DOI
  10.7754/clin.lab.2017.170805
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K09625, KAKENHI-PROJECT-17K10055
[Journal Article] Citrulline for urea cycle disorders in Japan2017
- Author(s)
  Tanaka Kenichi、Nakamura Kimitoshi、Matsumoto Shirou、Kido Jun、Mitsubuchi Hiroshi、Ohura Toshihiro、Endo Fumio
- Journal Title
  
  Pediatrics International
  
  Volume: 59 Pages: 422-426
- DOI
  10.1111/ped.13163
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10055
[Journal Article] Pulmonary artery hypertension in methylmalonic acidemia2017
- Author(s)
  Kido J, Mitsubuchi H, Sakanashi M, Matsubara J, Matsumoto S, Sakamoto R, Endo F, Nakamura K.
- Journal Title
  
  Hemodialysis International
  
  Volume: Apr;21(2)
- DOI
  10.1111/hdi.12506
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26870544, KAKENHI-PROJECT-17K10055
[Journal Article] Prevalence of Fabry disease and GLA c.196G>C variant in Japanese stroke patients2017
- Author(s)
  Nagamatsu Kiyoshiro、Sekijima Yoshiki、Nakamura Katsuya、Nakamura Kimitoshi、Hattori Kiyoko、Ota Masao、Shimizu Yusaku、Endo Fumio、Ikeda Shu-ichi
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 62 Pages: 665-670
- DOI
  10.1038/jhg.2017.31
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10055
[Journal Article] Liver transplantation may prevent neurodevelopmental deterioration in high-risk patients with urea cycle disorders2017
- Author(s)
  Kido Jun、Matsumoto Shirou、Momosaki Ken、Sakamoto Rieko、Mitsubuchi Hiroshi、Endo Fumio、Nakamura Kimitoshi
- Journal Title
  
  Pediatric Transplantation
  
  Volume: 21
- DOI
  10.1111/petr.12987
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10055
[Journal Article] A Case of Treated Gaucher Disease with Progressive Neurological Damage2017
- Author(s)
  Sakamoto Rieko、Matsumoto Shiro、Shimazu Tomoyuki、Yoshida Shinichiro、Kuraoka Shohei、Mitsubuchi Hiroshi、Nakamura Kimitoshi
- Journal Title
  
  Medical Science Case Reports
  
  Volume: 4 Pages: 37-40
- DOI
  10.12659/mscr.904439
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10055
[Journal Article] A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levels2017
- Author(s)
  Chinen Yasutsugu、Nakamura Sadao、Yoshida Tomohide、Maruyama Hiroki、Nakamura Kimitoshi
- Journal Title
  
  Human Genome Variation
  
  Volume: 4 Pages: 17002-17002
- DOI
  10.1038/hgv.2017.2
- NAID
  120006845623
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10055
[Journal Article] Impact of the 2016 Kumamoto Earthquake on a female patient with ornithine transcarbamoylase deficiency2017
- Author(s)
  Kido Jun、Yoshida Takanobu、Mitsubuchi Hiroshi、Matsumoto Shirou、Nakamura Kimitoshi
- Journal Title
  
  Pediatrics International
  
  Volume: 59 Pages: 1213-1215
- DOI
  10.1111/ped.13419
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10055
[Journal Article] Amelioration by glycine of brain damage in neonatal rat brain following hypoxia-ischemia.2017
- Author(s)
  Mori Hiroko、Momosaki Ken、Kido Jun、Naramura Tetsuo、Tanaka Kenichi、Matsumoto Shirou、Nakamura Kimitoshi、Mitsubuchi Hiroshi、Endo Fumio、Iwai Masanori
- Journal Title
  
  Pediatr Int.
  
  Volume: 59 Pages: 321-327
- DOI
  10.1111/ped.13164
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10055, KAKENHI-PROJECT-15K09625
[Journal Article] Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival2017
- Author(s)
  Yoshida Takanobu、Kido Jun、Mitsubuchi Hiroshi、Matsumoto Shirou、Endo Fumio、Nakamura Kimitoshi
- Journal Title
  
  Human Genome Variation
  
  Volume: 4 Pages: 17020-17020
- DOI
  10.1038/hgv.2017.20
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10055
[Journal Article] Plasma exchange and chelator therapy rescues acute liver failure in Wilson disease without liver transplantation.2017
- Author(s)
  Kido J, Matsumoto S, Momosaki K, Sakamoto R, Mitsubuchi H, Inomata Y, Endo F, Nakamura K
- Journal Title
  
  Hepatol. Res.
  
  Volume: Mar;47(4) Pages: 359-363
- DOI
  10.1111/hepr.12711
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26870544, KAKENHI-PROJECT-15K09625
[Journal Article] Elosulfase alfa enzyme replacement therapy attenuates disease progression in a non-ambulatory Japanese patient with Morquio A syndrome (case report)2017
- Author(s)
  Hiramatsu Misako、Nakamura Kimitoshi
- Journal Title
  
  Molecular Genetics and Metabolism Reports
  
  Volume: 13 Pages: 76-79
- DOI
  10.1016/j.ymgmr.2017.09.001
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10055
[Journal Article] Introduction to the Newborn Screening, Diagnosis, and Treatment for Pompe Disease Guidance Supplement2017
- Author(s)
  Kishnani P*, Hwu WL, Atherton A, Bodamer Olaf, Burton B, Day-Salvatore D, Giugliani R, Jones S, Kronn David, Nakamura K, Okuyama T, Scott C, Swoboda K
- Journal Title
  
  Pediatrics
  
  Volume: 140
- DOI
  10.1542/peds.2016-0280b
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10055
[Journal Article] Hyperammonemia crisis following parturition in a female patient with ornithine transcarbamylase deficiency.2017
- Author(s)
  Kido J, Kawasaki T, Mitsubuchi H, Kamohara H, Ohba T, Matsumoto F, Endo F, Nakamura K.
- Journal Title
  
  World Journal of Hepatology
  
  Volume: 9(6) Pages: 343-343
- DOI
  10.4254/wjh.v9.i6.343
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461919, KAKENHI-PROJECT-26870544, KAKENHI-PROJECT-26462757, KAKENHI-PROJECT-17K10055
[Journal Article] p.E66Q mutation in the GLA gene is associated with a high risk of cerebral small-vessel occlusion in elderly Japanese males2014
- Author(s)
  Nakamura K, Sekijima Y, NakamuraK, Hattori K, Nagamatsu K, Shimizu Y, Yazaki M, Sakurai A, Endo F, Fukushima Y, Ikeda S
- Journal Title
  
  Eur J Neurol
  
  Volume: 21 Pages: 49-56
- DOI
  10.1111/ene.12214
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591504, KAKENHI-PROJECT-25461275
[Journal Article] VLCAD deficiency in a patient who recovered from VF, but died suddenly of an RSV infection.2013
- Author(s)
  Yamamoto A, Nakamura K, Matsumoto S, Iwai M, Shigematsu Y, Tajima G, Tsumura M, Okada S, Mitsubuchi H, Endo F
- Journal Title
  
  Pediatr Int.
  
  Volume: 55 Pages: 775-778
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591504
[Journal Article] VLCAD deficiency in a patient who recovered from VF, but died suddenly of an RSV infection.2013
- Author(s)
  Yamamoto A, Nakamura K, Matsumoto S, Iwai M, Shigematsu Y, Tajima G, Tsumura M, Okada S, Mitsubuchi H, Endo F.
- Journal Title
  
  Pediatr Int.
  
  Volume: in press
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591504
[Journal Article] p.E66Q Mutation in the GLA Gene is Associated with a High Risk of Cerebral Small-Vessel Occlusion in Elderly Japanese Males.2013
- Author(s)
  Nakamura K, Sekijima Y, NakamuraK, Hattori K, Nagamatsu K, Shimizu Y, Yazaki M, Sakurai A, Endo F, Fukushima Y, Ikeda S
- Journal Title
  
  Eur J Neurol
  
  Volume: in press
- DOI
  10.1111/ene.12151
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591504
[Journal Article] Calreticulin induces dilated cardiomyopathy.2013
- Author(s)
  Lee D, Oka T, Hunter B, Robinson A, Papp S, Nakamura K, Srisakuldee W, Nickel BE, Light PE, Dyck JRB, Lopaschuk GD, Kardami E, Opas M, and Michalak M
- Journal Title
  
  Plos One
  
  Volume: 8
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591504
[Journal Article] Newborn screening for Fabry disease in Japan : Prevalence and genotypes of Fabry disease in a pilot study2013
- Author(s)
  Inoue　T, Hattori K, Ihara K, Ishii A, Nakamura K, Hirose S
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 58 Pages: 548-52
- DOI
  10.1038/jhg.2013.48
- NAID
  10031195285
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591504, KAKENHI-PROJECT-23791201
[Journal Article] Current status of hepatic glycogen storage disease in Japan : clinical manifestations(treatments and long-term outcomes. J. Hum.)2013
- Author(s)
  Kido J, Nakamura K, Matsumoto S, Mitsubuchi H, Ohura T, Shigematsu Y, Yorifuji T, Kasahara M, Horikawa R and Endo F
- Journal Title
  
  Genet
  
  Volume: 58 Pages: 285-292
- DOI
  10.1038/jhg.2013.17
- NAID
  10031177224
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591504
[Journal Article] Clinical features and management of organic acidemias in Japan2013
- Author(s)
  Fujisawa D, Nakamura K, Mitsubuchi H, Ohura T, Shigematsu Y, Yorifuji T, Kasahara M, Horikawa R, Endo F.
- Journal Title
  
  Genet
  
  Volume: 97 Pages: 769-74
- DOI
  10.1038/jhg.2013.97
- NAID
  40019919245
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591490, KAKENHI-PROJECT-23591504
[Journal Article] Newborn screening for Fabry disease in Japan:Prevalence and genotypes of Fabrydisease in a pilot study2013
- Author(s)
  Inoue T, Hattori K, Ihara K, Ishii A,Nakamura K, Hirose S
- Journal Title
  
  J. Hum. Genet
  
  Volume: (inpress)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22390209
[Journal Article] Interactive network analysis of the plasma amino acids profile in a mouse model of hyperglycemia2013
- Author(s)
  Tanaka T, Mochida T, Maki Y, Shiraki Y, Mori H, Matsumoto S, Shimbo K, Ando T, Nakamura K, Endo F, Okamoto M
- Journal Title
  
  Springerplus
  
  Volume: 2 Pages: 287-287
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591504
[Journal Article] p.E66Q Mutation in the GLAGene is Associated with a High Risk ofCerebral Small-Vessel Occlusion inElderly Japanese Males2013
- Author(s)
  Nakamura K, Sekijima Y, NakamuraK,Hattori K, Nagamatsu K, Shimizu Y,Yazaki M, Sakurai A, Endo F, FukushimaY, Ikeda S
- Journal Title
  
  Eur J Neurol
  
  Volume: (inpress)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22390209
[Journal Article] Current status of hepaticglycogen storage disease in Japan:clinical manifestations, treatmentsand long-term outcomes2013
- Author(s)
  Kido J, Nakamura K, Matsumoto S,Mitsubuchi H, Ohura T, Shigematsu Y,Yorifuji T, Kasahara M, Horikawa R,Endo F
- Journal Title
  
  J Hum Genet
  
  Volume: 58(5) Pages: 285-92
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22390209
[Journal Article] Calreticulin induces dilatedcardiomyopathy2013
- Author(s)
  Lee D, Oka T, Hunter B, Robinson A, PappS, Nakamura K, Srisakuldee W, Nickel BE,Light PE, Dyck JRB, Lopaschuk GD,Kardami E, Opas M, and Michalak M
- Journal Title
  
  Plos One
  
  Volume: (inpress)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22390209
[Journal Article] Nickel BE, Light PE, Dyck JRB, Lopaschuk GD, Kardami E, Opas M, and Michalak M Calreticulin induces dilated cardiomyopathy2013
- Author(s)
  Lee D, Oka T, Hunter B, Robinson A, Papp S, Nakamura K, Srisakuldee W
- Journal Title
  
  Plos One
  
  Volume: 8
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591504
[Journal Article] VLCAD deficiency in a patient whorecovered from VF2013
- Author(s)
  Yamamoto A, Nakamura K, Matsumoto S,Iwai M, Shigematsu Y, Tajima G, TsumuraM, Okada S, Mitsubuchi H, Endo F
- Journal Title
  
  but died suddenly ofan RSV infection
  
  Volume: (inpress)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22390209
[Journal Article] Interactive network analysis of the plasma amino acids profile in a mouse model of hyperglycemia.2013
- Author(s)
  Tanaka T, Mochida T, Maki Y, Shiraki Y, Mori H, Matsumoto S, Shimbo K, Ando T, Nakamura K, Endo F, Okamoto M.
- Journal Title
  
  Springerplus.
  
  Volume: 2 Pages: 287-287
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591504
[Journal Article] VLCAD deficiency in a patient who recovered from VF, but died suddenly of an RSV infection2013
- Author(s)
  Yamamoto A, Nakamura K, Matsumoto S, Iwai M, Shigematsu Y, Tajima G, Tsumura M, Okada S, Mitsubuchi H, Endo F
- Journal Title
  
  Pediatr Int
  
  Volume: 55
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591504
[Journal Article] Identification of a novel mutation and prevalence study for fabry disease in Japanese dialysis patients.2012
- Author(s)
  Nishino T, Obata Y, Furusu A, Hirose M, Shinzato K, Hattori K, Nakamura K, Matsumoto T, Endo F, Kohno S
- Journal Title
  
  Ren Fail.
  
  Volume: 34 Pages: 566-570
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591504
[Journal Article] Identification of a novel mutation andprevalence study for fabry disease inJapanese dialysis patients2012
- Author(s)
  Nishino T, Obata Y, Furusu A, HiroseM, Shinzato K, Hattori K, Nakamura K,Matsumoto T, Endo F, Kohno S
- Journal Title
  
  RenFail
  
  Volume: 34 Pages: 566-570
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22390209
[Journal Article] Effect of body mass index-z score on adverse levels of cardiovascular disease risk factors2012
- Author(s)
  Katsuren K, Nakamura K, Ohta T
- Journal Title
  
  Pediatr Int.
  
  Volume: 54 Pages: 200-204
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591504
[Journal Article] Ohta T Effectof body mass index-z score on adverselevels of cardiovascular disease riskfactors2012
- Author(s)
  Katsuren K, Nakamura K
- Journal Title
  
  Pediatr Int
  
  Volume: 54 Pages: 200-204
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22390209
[Journal Article] 高アンモニア血症、血中シトルリン高値、BUN高値　日本先天代謝異常学会　編2011
- Author(s)
  中村公俊　他
- Journal Title
  
  先天代謝異常症Diagnosis at a Glance
  
  Volume: 初版 Pages: 124-126
- Data Source
  KAKENHI-PROJECT-23591504
[Journal Article] Long-term outcome and intervention of urea cycle disorders in Japan2011
- Author(s)
  Kido J, Nakamura K, Mitsubuchi H, Ohura T, Takayanagi M, Matsuo M, Yoshino M, Shigematsu Y, Yorifuji T, Kasahara M, Horikawa R, Endo F
- Journal Title
  
  J Inherit Metab Dis
  
  Volume: (Epub ahead of print)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22390209
[Journal Article] Time-dependent changes in the plasma amino acid concentration in diabetes mellitus2011
- Author(s)
  Mochida T, Tanaka T, Shiraki Y, Tajiri H, Matsumoto S, Shimbo K, Ando T, Nakamura K, Okamoto M, Endo F.　. , ()
- Journal Title
  
  Mol Genet Metab
  
  Volume: 103 Pages: 406-409
- Data Source
  KAKENHI-PROJECT-23591504
[Journal Article] Newborn Screening for lysosomal disorders.2011
- Author(s)
  Nakamura K, Hattori K, Endo F
- Journal Title
  
  Am J Med Genet.
  
  Volume: 157 Pages: 63-71
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22390209
[Journal Article] Improved assay for differential diagnosis between Pompe disease and acid alpha-glucosidase pseudodeficiency on dried blood spots2011
- Author(s)
  Shigeto S, Katafuchi T, Okada Y, Nakamura K, Endo F, Okuyama T, Takeuchi H, Kroos MA, Verheijen FW, Reuser AJJ, Okumiya T
- Journal Title
  
  Mol. Genet. Metab
  
  Volume: 103 Pages: 12-17
- Data Source
  KAKENHI-PROJECT-23591504
[Journal Article] Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots2011
- Author(s)
  Shigeto S, Katafuchi T, Okada Y, Nakamura K, Endo F, Okuyama T, Takeuchi H, Kroos MA, Verheijen FW, Reuser AJ, Okumiya T
- Journal Title
  
  Molecular Genetics and Metabolism
  
  Volume: 103 Pages: 12-17
- DOI
  10.1016/j.ymgme.2011.01.006
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21590631, KAKENHI-PROJECT-23590679
[Journal Article] Newborn Screening for lysosomal disorders2011
- Author(s)
  中村公俊, et al.
- Journal Title
  
  merican Journal of Medical Genetics 157巻
  
  Pages: 63-71
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591226
[Journal Article] Long-term outcome and intervention of urea cycle disorders in Japan2011
- Author(s)
  Kido J, Nakamura K, Mitsubuchi H, Ohura T, Takayanagi M, Matsuo M, Yoshino M, Shigematsu Y, Yorifuji T, Kasahara M, Horikawa R and Endo F
- Journal Title
  
  Journal of Inherited Metabolic Disease
  
  Volume: 10.1007
- Data Source
  KAKENHI-PROJECT-23591504
[Journal Article] Improved assay for differential diagnosis between Pompe disease and acid alpha-glucosidase pseudodeficiency on dried blood spots.2011
- Author(s)
  Nakamura K, et all
- Journal Title
  
  Molecular Genetics and Metabolism
  
  Volume: 103 Pages: 12-17
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591226
[Journal Article] Newborn Screening for lysosomal disorders.2011
- Author(s)
  Nakamura K, et all
- Journal Title
  
  American Journal of Medical Genetics
  
  Volume: 157 Pages: 63-71
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591226
[Journal Article] Newborn Screening for lysosomal disorders2011
- Author(s)
  Nakamura K, Hattori K, Endo F.
- Journal Title
  
  Am J Med Genet
  
  Volume: 157 Pages: 63-71
- Data Source
  KAKENHI-PROJECT-23591504
[Journal Article] Improved assay for differential diagnosis between Pompe disease and acid alpha-glucosidase pseudodeficiency on dried blood spots2011
- Author(s)
  中村公俊, et al.
- Journal Title
  
  Molecular Genetics and Metabolism 103
  
  Pages: 12-17
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591226
[Journal Article] Time-dependent changes in the plasmaamino acid concentration in diabetesmellitus2011
- Author(s)
  Mochida T, Tanaka T, Shiraki Y, TajiriH, Matsumoto S, Shimbo K, Ando T,Nakamura K, Okamoto M, Endo F
- Journal Title
  
  Mol Genet Metab
  
  Volume: 103(4) Pages: 406-9
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22390209
[Journal Article] アミノ酸代謝異常症、尿素サイクル異常症、糖原病の新しい治療法2010
- Author(s)
  中村公俊
- Journal Title
  
  小児内科 42巻
  
  Pages: 1191-1194
- Data Source
  KAKENHI-PROJECT-20591226
[Journal Article] 先天性アミノ酸代謝異常症高チロシン血症2010
- Author(s)
  中村公俊
- Journal Title
  
  日本臨床別冊肝・胆道系症候群I 肝臓編(上)
  
  Pages: 486-489
- Data Source
  KAKENHI-PROJECT-20591226
[Journal Article] erebral hemorrhage in Fabry's disease.2010
- Author(s)
  Nakamura K, et all
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 55 Pages: 259-261
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591226
[Journal Article] Fabry病の疫学と診断2010
- Author(s)
  中村公俊
- Journal Title
  
  神経内科 73巻
  
  Pages: 168-172
- Data Source
  KAKENHI-PROJECT-20591226
[Journal Article] Cerebral hemorrhage in Fabry's disease2010
- Author(s)
  Nakamura K, Endo F., et al.
- Journal Title
  
  J Hum Genet.
  
  Volume: 55 Pages: 259-261
- NAID
  10030734716
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22390209
[Journal Article] Fabry病の疫学と診断2010
- Author(s)
  中村公俊
- Journal Title
  
  神経内科
  
  Volume: 73 Pages: 168-172
- Data Source
  KAKENHI-PROJECT-20591226
[Journal Article] 先天性アミノ酸代謝異常症高チロシン血症2010
- Author(s)
  中村公俊
- Journal Title
  
  日本臨床別冊肝・胆道系症候群I 肝臓編(上)
  
  Pages: 486-489
- Data Source
  KAKENHI-PROJECT-20591226
[Journal Article] アミノ酸代謝異常症、尿素サイクル異常症、糖原病の新しい治療法2010
- Author(s)
  中村公俊
- Journal Title
  
  小児内科
  
  Volume: 42 Pages: 1191-1194
- Data Source
  KAKENHI-PROJECT-20591226
[Journal Article] erebral hemorrhage in Fabry's disease2010
- Author(s)
  中村公俊, et al.
- Journal Title
  
  Journal of Human Genetics 55巻
  
  Pages: 259-261
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591226
[Journal Article] 遺伝性高チロシン血症、小児疾患診療のための病態生理22009
- Author(s)
  中村公俊, 他
- Journal Title
  
  小児内科 41増刊号
  
  Pages: 341-344
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591226
[Journal Article] Glycine regulates proliferation and differentiation of salivary-gland-derived progenitor cells2009
- Author(s)
  中村公俊, et al.
- Journal Title
  
  Cell Tissue Res 336
  
  Pages: 203-212
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591226
[Journal Article] Glycine regulates proliferation and differentiation ofsalivary-gland-derived progenitor cells.2009
- Author(s)
  Nakamura, et al.
- Journal Title
  
  Cell Tissue Res. 336
  
  Pages: 203-212
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591226
[Journal Article] 血中アミノ酸分析によって診断できる先天性アミノ酸代謝異常症2009
- Author(s)
  中村公俊, 他
- Journal Title
  
  日本臨床「広範囲血液・尿化学検査免疫学的検査」III 生化学的検査 67
  
  Pages: 625-629
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591226
[Journal Article] Glycine regulates proliferation and differentiation of salivary-gland-derived progenitor cells2009
- Author(s)
  Nakamura, et al.
- Journal Title
  
  Cell Tissue Res 336巻
  
  Pages: 203-212
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591226
[Journal Article] 遺伝性高チロシン血症2009
- Author(s)
  中村公俊, 他
- Journal Title
  
  小児疾患診療のための病態生理2小児内科 41増刊号
  
  Pages: 341-344
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591226
[Journal Article] Glycine regulates proliferation and differentiation of salivary-gland-derived progenitor cells2009
- Author(s)
  Nakamura Y, et al.
- Journal Title
  
  Cell Tissue Res 336巻
  
  Pages: 203-212
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591226
[Journal Article] 血中アミノ酸分析によって診断できる先天性アミノ酸代謝異常症2009
- Author(s)
  中村公俊, 他
- Journal Title
  
  日本臨床「広範囲血液・尿化学検査免疫学的検査」III生化学的検査 67巻
  
  Pages: 625-629
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20591226
[Journal Article] Animal model of tyrosinemia.2007
- Author(s)
  Nakamura K and Endo F, et. al.
- Journal Title
  
  J. Nutrition 137
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18591160
[Journal Article] Arrhythmia Induoed by Spatiotemporal Overexpression of Cahleticulin in the Heart2007
- Author(s)
  Hattori K, Nakamura K, et. al.
- Journal Title
  
  Mol.Genet.Metab. 91
  
  Pages: 285-293
- Description
  「研究成果報告書概要(和文)」より
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18591160
[Journal Article] Caheticulin negatively regulates the cell surface expression of cystic fib rosis transmembrane conductance regulator2007
- Author(s)
  Harada K, Nakamura K, et. al.
- Journal Title
  
  J Biol Chem. 281
  
  Pages: 12841-12848
- Description
  「研究成果報告書概要(和文)」より
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18591160
[Journal Article] Isolation of tissue progenitor cells from duct-ligated salivary glands of swine.2007
- Author(s)
  Matsumoto S, Okumura K, Ogata A, Hisatomi Y, Sato A, Hattori K, Matsumoto M, Kaji Y, Takahashi M, Yamamoto T, Nakamura K, Endo F.
- Journal Title
  
  Cloning and Stem Cells (In press)
- Data Source
  KAKENHI-PROJECT-17390100
[Journal Article] Arrhythmia Induced by Spatiotemporal Overexpression of Calreticulin in the Heart2007
- Author(s)
  Hattori, K., Nakamura, K., Hisatomi, Y., Matsumoto, S., Suzuki, M., Harvey, RP., Kurihara, H., Hattori, S., Yamamoto, T., Michalak, M., Endo, F
- Journal Title
  
  Mol. Genet. Metab. 91
  
  Pages: 285-293
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18591160
[Journal Article] Animal model of tyrosinemia2007
- Author(s)
  Nakamura K, Endo F, et. al.
- Journal Title
  
  J.Nutrition 137
- Description
  「研究成果報告書概要(和文)」より
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18591160
[Journal Article] Isolation of tissue progenitor cells from duct-ligated salivary glands of swine.2007
- Author(s)
  Matsumoto S, Okumura K, Ogata A, Hisatomi Y, Sato A, Hattori K, Matsumoto M, Kaji Y, Takahashi M, Yamamoto T, Nakamura K, Endo F
- Journal Title
  
  Cloning and Stem Cells (In press)
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17390100
[Journal Article] Animal model of tyrosinemia2007
- Author(s)
  Nakamura, K., Tanaka, Y., Mitsubuchi, H., Endo, F
- Journal Title
  
  J. Nutrition 137
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18591160
[Journal Article] Isolation of Tissue Progenitor Cells from Duct-Ligated Salivary Glands of Swine.2007
- Author(s)
  Matsumoto S and Nakamura K, et. al.
- Journal Title
  
  Cloning and Stem Cells 9
  
  Pages: 176-190
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18591160
[Journal Article] Gene expression profiles of homogentisate-treated Fah-/- Hpd-/-mice using DNA microarrays.2006
- Author(s)
  Tanaka Y., Nakamura K., Matsumoto S., Kimoto Y., Tanoue A., Tsujimoto G., Endo F.
- Journal Title
  
  Molecular Genetics and Metabolism 89
  
  Pages: 203-209
- Data Source
  KAKENHI-PROJECT-17390100
[Journal Article] Gene expression profiles of homogentisate-treated Fah-/- Hpd-/-mice using DNA microarrays.2006
- Author(s)
  Tanaka, Nakamura et al.
- Journal Title
  
  Molecular Genetics and Metabolism in press
- Data Source
  KAKENHI-PROJECT-16591042
[Journal Article] Calreticulin negatively regulates the cell surface expression of cystic fibrosis transmembrane conductance regulator2006
- Author(s)
  Harada, K., Okiyoneda, T., Hashimoto, Y., Ueno, K., Nakamura, K., Yamahira, K., Sugahara, T., Shuto, T., Wada, I., Suico, MA., Kai, H
- Journal Title
  
  J Biol Chem 281
  
  Pages: 12841-12848
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-18591160
[Journal Article] Calreticulin negatively regulates the cell surface expression of cystic fibrosis transmembrane conductance regulator.2006
- Author(s)
  Harada K, Okiyoneda T, Hashimoto Y, Ueno K, Nakamura K, Yamahira K, Sugahara T, Shuto T, Wada I, Suico MA, Kai H.
- Journal Title
  
  J Biol Chem., 281
  
  Pages: 12841-12848
- Data Source
  KAKENHI-PROJECT-18591160
[Journal Article] Gene expression profiles of homogentisate-treated Fah-/- Hpd-/-mice using DNA microarrays.2006
- Author(s)
  Tanaka Y, Nakamura K, Matsumoto S, Kimoto Y, Tanoue A, Tsujimoto G, Endo F
- Journal Title
  
  Mol.Genet.Metab. 89
  
  Pages: 203-207
- Data Source
  KAKENHI-PROJECT-18591160
[Journal Article] Gene expression profiles of homogentisate-treated Fah-/-Hpd-/-mice using DNA microarrays.2006
- Author(s)
  Tanaka Y., Nakamura K., Matsumoto S., Kimoto Y., Tanoue A., Tsujimoto G., Endo F.
- Journal Title
  
  Molecular Genetics and Metabolism 89
  
  Pages: 203-209
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-17390100
[Journal Article] Gene expression profiles of homogentisate-treated Fah-/-Hpd-/-mice using DNA microarrays.2006
- Author(s)
  Tanaka Y., Nakamura K., Matsumoto S., Kimoto Y., Tanoue A., Tsujimoto G., Endo F.
- Journal Title
  
  Molecular Genetics and Metabolism. 89
  
  Pages: 203-209
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17390100
[Journal Article] Calreticulin negatively regulates the cell surface expression of CFTR2006
- Author(s)
  Harada, Nakamura et al.
- Journal Title
  
  J Biol Chem. e-pub Mar.9
  
  Pages: 1-11
- Data Source
  KAKENHI-PROJECT-16591042
[Journal Article] Transient hypothyroidism or Persistent hyperthyrotropinemia in neonates born to mothers with excessive iodate intake.2004
- Author(s)
  Nishiyama, Nakamura et al.
- Journal Title
  
  Thyroid 14
  
  Pages: 1077-1083
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-16591042
[Journal Article] Flow-Cytometric Isolation of Endodermal Progenitors from Mouse Salivary Gland Differentiate into Hepatic and Pancreatic Lineages2004
- Author(s)
  Hisatomi Y, Okumura K, Nakamura K, Matsumoto S, Satoh A, Nagano K, Yamamoto T, Endo F
- Journal Title
  
  Hepatology 39
  
  Pages: 667-675
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-16591042
[Journal Article] Transient hypothyroidism or Persistent hyperthyrotropinemia in neonates born to mothers with excessive iodate intake.2004
- Author(s)
  Nishiyama S, Mikeda T, Okada T, Nakamura K, Kotani T, Hishinuma A
- Journal Title
  
  Thyroid 14
  
  Pages: 1077-1083
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-16591042
[Journal Article] Flow-Cytometric Isolation of Endodermal Progenitors from Mouse Salivary Gland Differentiate into Hepatic and Pancreatic Lineages2004
- Author(s)
  Hisatomi, Nakamura et al.
- Journal Title
  
  Hepatology 39
  
  Pages: 667-675
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-16591042
[Journal Article] Flow cytometric Isolation of endodermal progenitors from mouse salivary gland differentiate into hepatic and pancreatic lineages.2004
- Author(s)
  Hisatomi Y., Okumura K., Nakamura K., Matsumoto S., Satoh A., Nagano K., Yamamoto T., Endo F.
- Journal Title
  
  Hepatology 39
  
  Pages: 667-675
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-15390113
[Journal Article] Animal model reveal pathophysiologies of tyrosinemias.2003
- Author(s)
  Endo F., Tanaka Y., Tomoeda K., Tanoue A., Tsujimoto G., Nakamura K.
- Journal Title
  
  The Journal of Nutrition. 133
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-15390113
[Journal Article] Salivary gland progenitor cells induced by duct ligation differentiate into hepatic and pancreatic lineages.2003
- Author(s)
  Okumura K., Nakamura K., Hisatomi Y., Nagano K., Tanaka Y., Terada K., Sugiyama T., Umeyama K., Matsumoto K., Yamamoto T., Endo F.
- Journal Title
  
  hepatology 38
  
  Pages: 105-113
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-15390113
[Journal Article] A missense mutation(GGC[^<435>Gly→AGC[Ser]] in exon 8 of the CYP11B2 gene inherited in Japanese Patients with Congenital hypoaldosteronism.2003
- Author(s)
  Kuribayashi I., Kuge H., Santa J.R., Mutlaq Z.A., Yamasaki N., Furuno T., Takahashi A., Chida S., Nakamura T., Endo F., Doi Y., Onishi S., Shizuta Y.
- Journal Title
  
  Horm.Res 60
  
  Pages: 255-260
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-15390113
[Journal Article] Complete absence of bile and pancreatic ducts in a newborn : a new entity of congenital anomaly in hepato-pancreatic development.2003
- Author(s)
  Nakamura K, Endo F et al.
- Journal Title
  
  J Human Genetics 48
  
  Pages: 380-384
- NAID
  10011595339
- Description
  「研究成果報告書概要(和文)」より
- Data Source
  KAKENHI-PROJECT-15390113
[Journal Article] Complete absence of bile and pancreatic ducts in a newborn : a new entity of congenital anomaly in hepato-pancreatic development.2003
- Author(s)
  Nakamura K., Mitsubuchi H., Miyayama H., Yatsunami K., Ishimatsu J., Yamamoto T., Endo F.
- Journal Title
  
  J Human Genetics 48
  
  Pages: 380-384
- NAID
  10011595339
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-15390113
[Journal Article] Animal model of tyrosinemia.
- Author(s)
  Nakamura K, Tanaka Y, Mitsubuchi H, Endo F
- Journal Title
  
  J.Nutrition (in press)
- Data Source
  KAKENHI-PROJECT-18591160
[Journal Article] Arrhythmia Induced by Spatiotemporal Overexpression of Calreticulin in the Heart.
- Author(s)
  Hattori K, Nakamura K, Hisatomi Y, Matsumoto S, Suzuki M, Harvey RP, Kurihara H, Hattori S, Yamamoto T, Michalak M, Endo F
- Journal Title
  
  Mol.Genet.Metab. (in press)
- Data Source
  KAKENHI-PROJECT-18591160
[Journal Article] Isolation of tissue progenitor cells from duct-ligated salivary glands of swine.
- Author(s)
  Matsumoto S, Okumura K, Ogata A, Hisatomi Y, Sato A, Hattori K, Matsumoto M, Kaji Y, Takahashi M, Yamamoto T, Nakamura K, Endo F.
- Journal Title
  
  Cloning and Stem Cells (in press)
- Description
  「研究成果報告書概要(欧文)」より
- Data Source
  KAKENHI-PROJECT-17390100
[Journal Article] Isolation of Tissue Progenitor Cells from Duct-Ligated Salivary Glands of Swine.
- Author(s)
  Matsumoto S, OkumuraK, Ogata A, Hisatomi Y, Sato A, Hattori K, Matsumoto M, Kaji Y, Takahashi M, Yamamoto T, Nakamura K, Endo F
- Journal Title
  
  Cloning and Stem Cells (in press)
- Data Source
  KAKENHI-PROJECT-18591160
[Presentation] 乾燥ろ紙血を用いたいたライソゾーム病スクリーニング陽性症例とその臨床像2020
- Author(s)
  松本志郎1, 澤田貴彰1, 百崎謙2, 三渕浩3, 遠藤文夫4, 中村公俊1
- Organizer
  第47回日本マススクリーニング学会学術集会
- Data Source
  KAKENHI-PROJECT-20K08259
[Presentation] 熊本地域における新生児SCID pilot スクリーニングの経過報告2020
- Author(s)
  吉田真一郎1) 、山内芳裕1)、水上智之2)、遠藤文夫3)、中村公俊4)
- Organizer
  第47回日本マススクリーニング学会学術集会
- Data Source
  KAKENHI-PROJECT-20K08259
[Presentation] Development of drug screening system using neural stem cells derived from a patient with Type II Gaucher Disease.2019
- Author(s)
  Jun Kido, Tadahiro Numakawa, Shirou Matsumoto, Haruki Odaka, Minami Soga, Ryutarou Kajihara, Fumio Endo, Kimitoshi Nakamura, Takumi Era.
- Organizer
  SSIEM annual symposium 2019
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10054
[Presentation] Newborn screening for lysosomal storage diseases2018
- Author(s)
  Kimitoshi Nakamura
- Organizer
  The 5th Asian congress of inherited metabolic diseases
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10055
[Presentation] Perinatal diagnosis and amino acid profiles of a large family with ornithine transcarbamylase deficiency.2018
- Author(s)
  Shirou Matsumoto, Jun Kido, Hiroshi Mitsubuchi, Fumio Endo and Kimitoshi Nakamura
- Organizer
  the International Conference on Ureagenesis Defects
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09625
[Presentation] ムコ多糖症の新生児スクリーニング2018
- Author(s)
  中村公俊
- Organizer
  第60回日本先天代謝異常学会
- Invited
- Data Source
  KAKENHI-PROJECT-17K10055
[Presentation] ムコ多糖症1型および2型におけるNBSパイロット研究とムコ多糖症2型（4歳男児）の診断例報告2018
- Author(s)
  吉田真一郎、中村公俊　他
- Organizer
  第60回日本先天代謝異常学会総会
- Data Source
  KAKENHI-PROJECT-17K10055
[Presentation] 乾燥血液ろ紙を用いた低ホスファターゼ症のマススクリーニング検査法開発2017
- Author(s)
  吉田真一郎、中村公俊　他
- Organizer
  第51回日本小児内分泌学会
- Data Source
  KAKENHI-PROJECT-17K10055
[Presentation] 小児生活習慣病患者における血中アミノ酸プロファイル2017
- Author(s)
  鈴木陽輔、城戸淳、黒澤茶々、水洗添泉、坂本理恵子、中村公俊、松本志郎、遠藤文夫
- Organizer
  日本アミノ酸学会第 11 回学術大会(JSAAS2017)
- Data Source
  KAKENHI-PROJECT-15K09625
[Presentation] Development of drug screening system using iPS cells derived from a patient with Gaucher Disease Type II2017
- Author(s)
  Jun Kido, Tadahiro Numakawa, Shirou Matsumoto, Hiroki Odaka,　Minami Soga,　Ryutarou Kajihara, Fumio Endo, Kimitoshi Nakamura,Takumi Era.
- Organizer
  The 59th Annual Meeting of the Japanese Society for Inherited Metabolic Diseases
- Data Source
  KAKENHI-PROJECT-17K10054
[Presentation] Urea Cycle Amino Acids,Properties and Clinical Application. Role of Citrulline and Urea Cycle Disorders2013
- Author(s)
  Kimitoshi Nakamura
- Organizer
  The 8th Asia Pacific Conference on Clinical Nutrition, 2013 The Tokyo Bay Maihama Hotel Club
- Place of Presentation
  Tokyo, Japan
- Year and Date
  2013-06-10
- Data Source
  KAKENHI-PROJECT-23591504
[Presentation] Screening for Fabry Disease in Japan2013
- Author(s)
  Kimitoshi Nakamura, MD
- Organizer
  2013 Joint Meeting of the Newborn Screening and Genetic Testing Symposium and the International Society for Neonatal Screening
- Place of Presentation
  Atlanta Marriott Marquis(Atlanta, GA,USA)
- Data Source
  KAKENHI-PROJECT-23591504
[Presentation] Screening for Fabry Disease in Japan2013
- Author(s)
  Kimitoshi Nakamura
- Organizer
  International Society for Neonatal Screening
- Place of Presentation
  Atranta USA
- Data Source
  KAKENHI-PROJECT-23591504
[Presentation] Urea Cycle Disorders in Japan2013
- Author(s)
  Kimitoshi Nakamura
- Organizer
  SHARE Meeting 2013
- Place of Presentation
  Mövenpick Hotel Amsterdam City Centre, Amsterdam, Netherlands
- Year and Date
  2013-06-27
- Data Source
  KAKENHI-PROJECT-23591504
[Presentation] Screening for Lysosomal StorageDisorders2012
- Author(s)
  Kimitoshi Nakamura,Fumio Endo
- Organizer
  The 18 th Annual Meeting ofJapan Society of Gene Therapy
- Place of Presentation
  Hotel Kumamoto Terrsa
- Year and Date
  2012-06-30
- Data Source
  KAKENHI-PROJECT-22390209
[Presentation] A patient ofGaucher's disease type 2 withrecurrent ARDS2012
- Author(s)
  Shirou Matsumoto, Kiyoko Hattori,Kimitoshi Nakamura, HiroshiMitsubuchi1, Fumio Endo
- Organizer
  The 4th InternationalForum for Lysosomal Storage Disease &17th Japanese Society for. LysosomalDisease
- Place of Presentation
  Tokyo Prince Hotel
- Year and Date
  2012-09-05
- Data Source
  KAKENHI-PROJECT-22390209
[Presentation] 熊本市小児生活習慣病予防検診の現状～小児生活習慣病専門医の立場から2012
- Author(s)
  中村公俊
- Organizer
  第43回全国学校保健・学校医大会シンポジウム子どもたちの生活習慣病予防
- Place of Presentation
  ホテル日航熊本、熊本市
- Year and Date
  2012-11-10
- Data Source
  KAKENHI-PROJECT-22390209
[Presentation] Overview of Japan Newborn ScreeningExperience for Pompe Disease2012
- Author(s)
  Kimitoshi Nakamura, Fumio Endo
- Organizer
  14th AsiaLSD Symposium
- Place of Presentation
  BeijingChina
- Year and Date
  2012-10-20
- Data Source
  KAKENHI-PROJECT-22390209
[Presentation] Screening for Fabry Disease in Japan2012
- Author(s)
  Kimitoshi Nakamura, Fumio Endo
- Organizer
  2012 Joint Conference of MedicalGenetics, Genomics & Korean LSDSymposium
- Place of Presentation
  Seoul, Korea
- Year and Date
  2012-11-23
- Data Source
  KAKENHI-PROJECT-22390209
[Presentation] Newborn Screening in Japan.2012
- Author(s)
  Nakamura K
- Organizer
  The 10th Asia-Pacific Conference on Human Genetics
- Place of Presentation
  Crowne Plaza, Kuala Lumpur, Malaysia
- Data Source
  KAKENHI-PROJECT-23591504
[Presentation] ろ紙血を用いたファブリー病のスクリーニング2011
- Author(s)
  中村公俊，服部希世子，田崎隆二，松本志郎，三渕浩，遠藤文夫
- Organizer
  第３８回日本マス・スクリーニング学会
- Place of Presentation
  福井県県民ホール（福井）
- Data Source
  KAKENHI-PROJECT-23591504
[Presentation] 尿素サイクル異常症（UCD）の治療法‐風はどっちにふいている？‐2011
- Author(s)
  中村公俊
- Organizer
  第53回日本先天代謝異常学会
- Place of Presentation
  ホテルニューオータニ幕張（千葉）
- Data Source
  KAKENHI-PROJECT-23591504
[Presentation] ろ紙血を用いたファブリー病のスクリーニングとαガラクトシダーゼ遺伝子のE66Q変異2011
- Author(s)
  中村公俊，服部希世子，松本志郎，三渕浩，遠藤文夫
- Organizer
  第56回人類遺伝学会
- Place of Presentation
  幕張メッセ（千葉）
- Data Source
  KAKENHI-PROJECT-23591504
[Presentation] 尿素サイクル異常症（OTC欠損症、CPS1欠損症）とリジン尿性蛋白不耐症におけるシトルリン治療2011
- Author(s)
  中村公俊　他
- Organizer
  第53回日本先天代謝異常学会
- Place of Presentation
  ホテルニューオータニ幕張（千葉）
- Data Source
  KAKENHI-PROJECT-23591504
[Presentation] ろ紙血を用いたファブリー病のスクリーニング2011
- Author(s)
  中村公俊，服部希世子，松本志郎，田崎隆二，三渕浩，遠藤文夫
- Organizer
  第53回日本先天代謝異常学会
- Place of Presentation
  ホテルニューオータニ幕張（千葉）
- Data Source
  KAKENHI-PROJECT-23591504
[Presentation] Screening for Fabry Disease in Japan2011
- Author(s)
  K.Nakamura, K.Hattori, S.Matsumoto,　H.Mitsubuchi, F.Endo
- Organizer
  12thICHG Montreal2011
- Place of Presentation
  Montreal Canada
- Data Source
  KAKENHI-PROJECT-23591504
[Presentation] Cell transplantation study for hereditary tyrosinemia type I model mice with mouse salivary gland derived progenitors2011
- Author(s)
  中村公俊、松本志郎、遠藤文夫
- Organizer
  第17回日本遺伝子治療学会
- Place of Presentation
  九州大学セントラルホール、福岡
- Year and Date
  2011-07-16
- Data Source
  KAKENHI-PROJECT-22390209
[Presentation] Screening for Fabry Disease in Japan2010
- Author(s)
  中村公俊
- Organizer
  ヨーロッパ先天代謝異常学会
- Place of Presentation
  Istanbul Convention and Exhibition Center
- Year and Date
  2010-09-01
- Data Source
  KAKENHI-PROJECT-20591226
[Presentation] ろ紙血を用いたファブリー病のスクリーニング2010
- Author(s)
  中村公俊, 他
- Organizer
  第37回日本マス・スクリーニング学会
- Place of Presentation
  ワークピア横浜
- Year and Date
  2010-08-28
- Data Source
  KAKENHI-PROJECT-20591226
[Presentation] ろ紙血を用いたファブリー病のスクリーニング2010
- Author(s)
  中村公俊, 他
- Organizer
  第52回日本先天代謝異常学会
- Place of Presentation
  大阪国際会議場(グランキューブ大阪)
- Year and Date
  2010-10-22
- Data Source
  KAKENHI-PROJECT-20591226
[Presentation] STEM CELL THERAPY FOR DIABETES MELLITUS : SALIVARY GLAND DERIVED PROGENITORS2010
- Author(s)
  中村公俊, 他
- Organizer
  第16回日本遺伝子治療学会学術集会
- Place of Presentation
  栃木県総合文化センター
- Year and Date
  2010-07-01
- Data Source
  KAKENHI-PROJECT-20591226
[Presentation] Screening for Fabry Disease in Japan2010
- Author(s)
  中村公俊
- Organizer
  ヨーロッパ先天代謝異常学会
- Place of Presentation
  Istanbul Convention and Exhibition Center、イスタンブール、トルコ
- Year and Date
  2010-09-01
- Data Source
  KAKENHI-PROJECT-20591226
[Presentation] Glycine regulates the cell proliferation and differentiation of tissue stem cells and mouse embryonic stem cells2010
- Author(s)
  中村公俊, 他
- Organizer
  第16回日本遺伝子治療学会学術集会
- Place of Presentation
  栃木県総合文化センタ
- Year and Date
  2010-07-01
- Data Source
  KAKENHI-PROJECT-20591226
[Presentation] Glycine regulates the cell proliferation and differentiation of tissue stem cells and mouse embryonic stem cells.2010
- Author(s)
  中村公俊, 他
- Organizer
  第16回日本遺伝子治療学会学術集会
- Place of Presentation
  栃木県総合文化センター
- Year and Date
  2010-07-01
- Data Source
  KAKENHI-PROJECT-20591226
[Presentation] ろ紙血を用いたファブリー病のスクリーニング2008
- Author(s)
  中村公俊, 他
- Organizer
  第35回日本マススクリーニング学会
- Place of Presentation
  ホテル一畑、松江
- Year and Date
  2008-08-29
- Data Source
  KAKENHI-PROJECT-20591226
[Presentation] Newborn Screening for Fabry Disease.2008
- Author(s)
  Nakamura, et al.
- Organizer
  第50回日本先天代謝異常学会
- Place of Presentation
  米子
- Year and Date
  2008-11-06
- Data Source
  KAKENHI-PROJECT-20591226
[Presentation] Newborn Screening for Fabry Disease in Japan2008
- Author(s)
  中村公俊, et al.
- Organizer
  Society for Study of Inborn Error of Metabolism
- Place of Presentation
  Lisboa Congress Centre、Lisboa、ポルトガル
- Data Source
  KAKENHI-PROJECT-20591226
[Presentation] ろ紙血を用いたファブリー病のスクリーニングの試み2008
- Author(s)
  中村公俊, 他
- Organizer
  第111回日本小児科学会
- Place of Presentation
  東京国際フォーラム
- Year and Date
  2008-04-26
- Data Source
  KAKENHI-PROJECT-20591226
[Presentation] ろ紙血を用いたファブリー病のスクリーニングの試み2008
- Author(s)
  中村公俊, 他
- Organizer
  第112回日本小児科学会
- Place of Presentation
  東京
- Year and Date
  2008-04-26
- Data Source
  KAKENHI-PROJECT-20591226
[Presentation] Newborn Screening for Fabry Disease2008
- Author(s)
  中村公俊, et al.
- Organizer
  第50回日本先天代謝異常学会
- Place of Presentation
  米子コンベンションセンター
- Year and Date
  2008-11-06
- Data Source
  KAKENHI-PROJECT-20591226
[Presentation] Newborn Screening for Fabry Disease in Japan2008
- Author(s)
  Nakamura, et al.
- Organizer
  Society for Study of Inborn Error of Metabolism
- Place of Presentation
  Lisboa
- Data Source
  KAKENHI-PROJECT-20591226
[Presentation] ワークショップ1 治る腎炎、治らない腎炎ファブリー病2008
- Author(s)
  中村公俊, 他
- Organizer
  第38回日本腎臓学会西部学術大会
- Place of Presentation
  名古屋
- Year and Date
  2008-09-26
- Data Source
  KAKENHI-PROJECT-20591226
[Presentation] ろ紙血を用いたファブリー病のスクリーニング2008
- Author(s)
  中村公俊, 他
- Organizer
  第35回日本マススクリーニング学会
- Place of Presentation
  松江
- Year and Date
  2008-08-29
- Data Source
  KAKENHI-PROJECT-20591226
[Presentation] ワークショップ1治る腎炎、治らない腎炎ファブリー病2008
- Author(s)
  中村公俊, 他
- Organizer
  第38回日本腎臓学会西部学術大会
- Place of Presentation
  ウィルあいち、名古屋
- Year and Date
  2008-09-26
- Data Source
  KAKENHI-PROJECT-20591226
[Presentation] Screening for Fabry Disease in Japan.
- Author(s)
  Nakamura K
- Organizer
  4th International Forum for Lysosomal Storage Disease
- Place of Presentation
  Jikei University Auditorium, Tokyo
- Data Source
  KAKENHI-PROJECT-23591504
[Presentation] 日本人ポンペ病に対する新生児マススクリーニング法の確立と遺伝子解析
- Author(s)
  山中万次郎, 西岡和輝, 中村公俊, 遠藤文夫, 奥宮敏可
- Organizer
  第61回日本臨床検査医学会学術集会
- Place of Presentation
  福岡市：福岡国際会議場
- Year and Date
  2014-11-22 – 2014-11-25
- Data Source
  KAKENHI-PROJECT-23590679
[Presentation] 日本人ポンペ病に対する新生児マススクリーニング法の確立
- Author(s)
  山中万次郎, 西岡和輝, 中村公俊, 遠藤文夫, 奥宮敏可
- Organizer
  第54回日本臨床化学会年次学術集会
- Place of Presentation
  東京：東京大学本郷キャンパス
- Year and Date
  2014-09-05 – 2014-09-07
- Data Source
  KAKENHI-PROJECT-23590679
[Presentation] Screening for Fabry Disease in Japan.
- Author(s)
  Nakamura K
- Organizer
  2012 Joint Conference of Medical Genetics, Genomics & Korean LSD Symposium.
- Place of Presentation
  Asan Medical Center, Seoul, Korea
- Invited
- Data Source
  KAKENHI-PROJECT-23591504
[Presentation] 日本人ポンペ病に対する新生児マススクリーニング法の確立と遺伝子解析
- Author(s)
  中万次郎, 西岡和輝, 百崎謙, 中村公俊, 遠藤文夫, 奥宮敏可
- Organizer
  第8回日本臨床検査学教育学会学術大会
- Place of Presentation
  東京：大田区産業プラザ
- Year and Date
  2014-08-20 – 2014-08-22
- Data Source
  KAKENHI-PROJECT-23590679
[Presentation] Overview of Japan Newborn Screening Experience for Pompe Disease
- Author(s)
  Nakamura K
- Organizer
  14th Asia LSD Symposium
- Place of Presentation
  Grand Hyatt Beijing Chaina
- Invited
- Data Source
  KAKENHI-PROJECT-23591504
[Presentation] UREA CYCLE AMINO ACIDS; ARGININE, ORNITHINE AND CITRULLINE- PROPERTIES AND CLINICAL APPLICATION
- Author(s)
  Kimitoshi Nakamura
- Organizer
  The 8th Asia Pacific Conference on Clinical Nutrition
- Place of Presentation
  Tokyo Bay Maihama Hotel Club Resort, Tokyo, Japan
- Invited
- Data Source
  KAKENHI-PROJECT-23591504

1. ENDO Fumio (00176801)

# of Collaborated Projects: 5 results

# of Collaborated Products: 29 results
2. MATSUMOTO Shiro (70467992)

# of Collaborated Projects: 3 results

# of Collaborated Products: 22 results
3. YAMAMOTO Tetsuro (60112405)

# of Collaborated Projects: 3 results

# of Collaborated Products: 6 results
4. Okumiya Toshika (50284435)

# of Collaborated Projects: 2 results

# of Collaborated Products: 5 results
5. Kido Jun (70721215)

# of Collaborated Projects: 2 results

# of Collaborated Products: 20 results
6. INDO Yasuhiro (40244131)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
7. KATOH Hideki (30142053)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
8. ADACHI Naoto (00264292)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
9. OKUYAMA TORAYUKI (40177192)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
10. OHOTAKE AKIRA (00203810)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
11. KUBO TORU (80325422)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
12. 沼川忠広 (40425690)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
13. 曽我美南 (80768002)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
14. TANAKA Hirotoshi

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
15. HINO Shinjiro

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
16. ANAN Kotaro

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
17. TAKASE Ryuta

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
18. KOHROGI Kensaku

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
19. ARAKI Hirotaka

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
20. HINO Yuko

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
21. SHIGEMATSU Yosuke

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
22. TAKEUCHI Hiroaki

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
23. KAMOHARA Hidenobu

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
24. SEKIJIMA Yoshiki

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
25. 中尾光善

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
26. 清水宣明

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
27. 石井敦士

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
28. 中村卓郎

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
29. 吉田進昭

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
30. 吉田稔

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
31. 井上純一郎

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
32. 長谷部直幸

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
33. 矢崎正英

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Nakamura Kimitoshi 中村 公俊

中村 公俊 ナカムラ キミトシ

NAKAMURA KIMITOSHI 中村 公俊

NAKAMURA Kimitoshi 中村 公俊

Research Projects

Research Products

Co-Researchers

脊髄性筋萎縮症とポンペ病の遺伝子解析とELISA法を用いた早期診断治療体制の確立Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

濾紙血中のSMNタンパク測定による脊髄性筋萎縮症の新生児スクリーニングPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Newborn Screening for HypophosphatasiaPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Role of calcium signaling on the endodermal stem cells in the metabolic syndrom from childhood.Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Role of calcium signaling on the hepatic and pancreatic stem cells in the animal model of metabolic syndrome during childhood.Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

The Role of Calcium Signaling in the Metabolic Syndrome during Childhood OnsetPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Role of calcium signals for metabolic syndromes in children.Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Principal Investigator

Nakamura Kimitoshi 中村公俊

中村公俊ナカムラキミトシ

NAKAMURA KIMITOSHI 中村公俊

NAKAMURA Kimitoshi 中村公俊

[Book] 尿素サイクル異常症　小児疾患の診断治療基準　第4版　小児内科　第44巻増刊号2012