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Nakamura Kimitoshi  中村 公俊

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NAKAMURA KIMITOSHI  中村 公俊

NAKAMURA Kimitoshi  中村 公俊

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Researcher Number 30336234
Other IDs
Affiliation (Current) 2022: 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 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
2008 – 2013: Kumamoto University, 医学部附属病院, 講師 … More
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 / Pediatrics / Basic Section 52050:Embryonic medicine and pediatrics-related
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
  • Research Projects

    (15 results)
  • Research Products

    (172 results)
  • Co-Researchers

    (33 People)
  •  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

All 2022 2021 2020 2019 2018 2017 2014 2013 2012 2011 2010 2009 2008 2007 2006 2004 2003 Other

All Journal Article Presentation Book

  • [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

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