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2007 Fiscal Year Final Research Report Summary

Analysis of familial steroid-sensitive nephrotic syndrome

Research Project

Project/Area Number 18590920
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Kidney internal medicine
Research InstitutionNational Research Institute for Child Health and Development

Principal Investigator

IIJIMA Kazumoto  National Research Institute for Child Health and Development, NCCHD, Dept. of Nephrology, Director (00240854)

Co-Investigator(Kenkyū-buntansha) TSUKAGUCHI Hiroyasu  Univ. of Tokushima Graduate School, Clinical Biology and Medicine, Assistant Professor (60335792)
Project Period (FY) 2006 – 2007
KeywordsNephrotic Syndrome / Familial / Genetics
Research Abstract

Steroid sensitive idiopathic nephrotic syndrome (SSN) is the most common nephrotic syndrome in children. In most cases, SSN occurs sporadically and is considered to be a multifactorial disorder. However, familial clustering SSN was sometimes observed. To better define the contribution of genetic factors, we retrospectively studied clinical features and genetic influences in a cohort of 14 non consanguineous, unrelated SSN families of Japanese origin. The average age of onset was 4.3 years old. The interval of the onset between the affected sib-pair was 2.9 years old, which are quite similar to the features of European SSN families cohort. Despite the considerable intra-familial concordance with respect to the age of onset, therapeutic responsiveness and subsequent relapse frequency varied somehow between the affected sibs within a given family, even between affected monozygotic twins. Most patients experienced several, non-frequent relapses after initial treatment and enterd a complete sustained remission until age of 15 years. Eight patients had a more prolonged clinical course as they became frequent-relapsers and steroid-dependent. Renal biopsy showed minor glomerular abnormalities in 8 patients. A half of the patients (46%) had allergic diseases. All the 28 patients maintained a normal renal function during the observation period. Our results indicate that this cohort represents a familial form of SSN mimicking a common sporadic counterpart and will constitutes a subgroup of minimal change nephrotic syndrome where the recessive genetic factors plays a substantial role in the pathogenesis, possibly interacting with some epigenetic or environmental factors.

  • Research Products

    (51 results)

All 2008 2007 Other

All Journal Article (29 results) (of which Peer Reviewed: 15 results) Presentation (20 results) Book (2 results)

  • [Journal Article] Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness2008

    • Author(s)
      Nozu K, Inagaki T, Fu XJ, Nozu Y, Kaito H, Kanda K, Sekine T, Igarashi T, Nakanishi K, Yoshikawa N, Iijima K, Matuo M
    • Journal Title

      J Med Genet 45

      Pages: 182-186

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
  • [Journal Article] Management of diarrhea-associated hemolytic uremic syndrome in children2008

    • Author(s)
      Iijima K, Kamioka I, Nozu K
    • Journal Title

      Clin Exp Nephrol 12

      Pages: 16-19

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
  • [Journal Article] Rituximab for refractory focal segmental glomerulosclerosis2008

    • Author(s)
      Nakayama M, Kamei K, Nozu K, Matsuoka K, Nakagawa A, Sako M, Iijima K
    • Journal Title

      Pediatr Nephrol 23

      Pages: 481-485

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
  • [Journal Article] Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness2008

    • Author(s)
      Nozu K, Inagaki T, Fu XJ, Nozu Y, Kaito H, Kanda K, Sekine T, Igarashi T,Nakanishi K, Yoshikawa N, Iijima K, Matsuo M.
    • Journal Title

      J Med Genet 45

      Pages: 182-186

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Management of diarrhea-associated hemolytic uremic syndrome in children2008

    • Author(s)
      Iijima K, Kamioka I, Nozu K.
    • Journal Title

      Clin Exp Nephrol 12

      Pages: 16-19

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Rituximab for refractory focal segmental glomerulosclerosis2008

    • Author(s)
      Nakayama M, Kamei K, Nozu K, Matsuoka K, Nakagawa A, Sako M, Iijima K.
    • Journal Title

      Pediatr Nephrol 23

      Pages: 481-485

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Association of cumulative cyclosporine dose with its irreversible nephrotoxicity in Japanese patients with pediatric-onset autoimmune diseases2007

    • Author(s)
      Nakamura T, Nozu K, Iijima K, Yoshikawa N, Moriya Y, Yamamori M, Kako A, Matsuo M, Sakurai A, Okamura K, Sakaeda T
    • Journal Title

      Biol Pharm Bull 30

      Pages: 2371-2375

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
  • [Journal Article] Long-term follow-up of juvenile acute nonproliferative glomerulitis (JANG).2007

    • Author(s)
      Fujita T, Nozu K, Iijima K, Kamioka I, Kaito H, Tanaka R, Nakanishi K, Matsuo M, Yoshikawa N
    • Journal Title

      Pediatr Nephrol 22

      Pages: 1957-1961

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
  • [Journal Article] Molecular analysis of patients with type III Bartter syndrome: picking up large heterozygous deletions with semiquantitative PCR2007

    • Author(s)
      Nozu K, Fu XJ, Nakanishi K, Yoshikawa N, Kaito H, Kanda K, Krol RP, Miyashita R, Kamitsuji H, Kanda S, Hayashi Y, Satomura K, Simizu N, Iijima K, Matsuo M
    • Journal Title

      Pediatr Res 62

      Pages: 364-369

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
  • [Journal Article] Prognosis and pathological characteristics of five children with non-Shiga toxin-mediated hemolytic uremic syndrome2007

    • Author(s)
      Kamioka I, Nozu K, Fujita T, Kaito H, Tanaka R, Yoshiya K, Iijima K, Nakanishi K, Yoshikawa N, Matsuo M
    • Journal Title

      Pediatr Int 49

      Pages: 196-201

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
  • [Journal Article] Chronic glomerulonephritis associated with IgG subclass deficiency2007

    • Author(s)
      Kamei K, Nakagawa A, Otsuka Y, Nakayama M, Kobayashi S, Matsuoka K, Iijima K
    • Journal Title

      Pediatr Nephrol 22

      Pages: 1229-1234

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
  • [Journal Article] Detection of a transcript abnormality in mRNA of the SLC12A3 gene extracted from urinary sediment cells of a patient with Gitelman's syndrome2007

    • Author(s)
      Kaito H, Nozu K, Fu XJ, Kamioka I, Fujita T, Kanda K, Krol RP, Suminaga R, Ishida A, Iijima K, Matsuo M
    • Journal Title

      Pediatr Res 61

      Pages: 502-506

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
  • [Journal Article] A novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronism2007

    • Author(s)
      Nozu K, Fu XJ, Kaito H, Kanda K, Yokoyama N, Przybyslaw Krol R, Nakajima T, Kajiyama M, Iijima K, Matsuo M
    • Journal Title

      Pediatr Nephrol 22

      Pages: 1219-1223

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
  • [Journal Article] OCRL1 mutations in patients with Dent disease phenotype in Japan2007

    • Author(s)
      Sekine T, Nozu K, Iyengar R, Fu XJ, Matsuo M, Tanaka R, Iijima K, Matsui E, Harita Y, Inatomi J, Igarashi T
    • Journal Title

      Pediatr Nephrol 22

      Pages: 975-980

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
  • [Journal Article] A familial childhood-onset relapsing nephrotic syndrome2007

    • Author(s)
      Kitamura A, Tsukaguchi H, Hiramoto R, Shono A, Doi T, Kagami S, Iijima K
    • Journal Title

      Kidney Int 71

      Pages: 946-951

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
  • [Journal Article] Association of cumulative cyclosporine dose with its irreversible nephrotoxicity in Japanese patients with pediatric-onset autoimmune diseases2007

    • Author(s)
      Nakamura T, Nozu K., Iijima K, Yoshikawa N, Moriya Y, Yamamori M,Kako A, Matsuo M, Sakurai A, Okamura N, Isktkawa T, Okumura K,Sakaeda T.
    • Journal Title

      Biol Pharm Bull 30

      Pages: 2371-2375

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Long-term follow up of juvenile acute nonproliferative glomerulitis(JANG)2007

    • Author(s)
      Fujita T, Nozu K Iijima K, Kamioka I, Kaito H, Tanaka R, Nakanishi K,Matsuo M, Yoshikawa N.
    • Journal Title

      Pediatr Nephrol 22

      Pages: 1957-1961

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Molecular analysis of patients with type III Bartter syndrome : picking up large heterozygous deletions with semiquantitative PCR2007

    • Author(s)
      Nozu K, Fu XJ, Nakanishi K, Yoshikawa N, Kaito H, Kanda K, Krol RP, Miyashita R, Kamitsuji H, Kanda S, Hayashi Y, Satomura K, Shimizu N, Iijima K, Matsuo M.
    • Journal Title

      Pediatr Res 62

      Pages: 364-369

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Prognosis and pathological characteristics of five children with non-Shiga toxin-mediated hemolytic uremic syndrome2007

    • Author(s)
      Kaimoka I, Nozu K, Fujita T, Kaito H, Tanaka R, Yoshiya K, Iijima K, Nakanishi K, Yoshikawa N, Matsuo M.
    • Journal Title

      Pediatr Int 49

      Pages: 196-201

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Chronic glomerulonephritis associated with IgG subclass deficiency2007

    • Author(s)
      Kamei K, Nakagawa A, Otsuka Y, Nakayama M, Kobayashi S, Matsuoka K, Iijima K.
    • Journal Title

      Pediatr Nephrol 22

      Pages: 1229-1234

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Detection of a transcript abnormality in mRNA of the SLC12A3 gene extracted from urinary sediment cells of a patient with Gitelman's syndrome2007

    • Author(s)
      Kaito H, Nozu K, Fu XJ, Kamioka I, Fujita T, Kanda K, Krol RP, Summaga R, Ishida A, Iijima K, Matsuo M.
    • Journal Title

      Pediatr Res 61

      Pages: 502-506

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] A novel mutation in KCNJ1n a Bartter syndrome case diagnosed as pseudohypoaldosteronism2007

    • Author(s)
      Nozu K, Fu XJ, Kaito H, Kanda K, Yokoyama N, Przybyslaw Krol R, Nakajima T, Kajiyama M, Iijima K, Matsuo M.
    • Journal Title

      Pediatr Nephrol 22

      Pages: 1219-1223

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] OCRL1 mutations in patients with Dent disease phenotype in Japan2007

    • Author(s)
      Sekine T, Nozu K, Iyengar R, Fu XJ, Matsuo M, Tanaka R, Iijima K, Matsui E, Harita Y, Inatomi J, Igarashi T.
    • Journal Title

      Pediatr Nephrol 22

      Pages: 975-980

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Steroido Resintant Nephrotic Syndrome

    • Author(s)
      Kitamura A, Tsukaguchi H, Maruyama K, Shono A, Iijima K, Kagami S, Doi T,
    • Journal Title

      Kidney Int (印刷中)

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
  • [Journal Article] Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome

    • Author(s)
      Krol RP, Nozu K, Nakanishi K, Iijima K, Takeshima Y, Fu XJ, Nozu Y, Kaito H, Kanda K, Matsuo M, Yoshikawa N
    • Journal Title

      Nephrol Dial Transplant (印刷中)

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
  • [Journal Article] Improved renal survival in Japanese children with IgA nephropathy

    • Author(s)
      Yata N, Nakanishi K, Shima Y, Togawa H, Obana M, Sako M, Nozu K, Tanaka R, Iijima K, Yoshikawa N
    • Journal Title

      Pediatr Nephrol (印刷中)

    • Description
      「研究成果報告書概要(和文)」より
    • Peer Reviewed
  • [Journal Article] Steroid Resintant Nephrotic Syndrome

    • Author(s)
      Kitamura A, Tsukaguchi H, Maruyama K, Shono A, Iijima K, Kagami S, Doi T.
    • Journal Title

      Kidney Int (in press)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome

    • Author(s)
      Krol RP, Nozu K, Nakanishi K, Iijima K, Takeshima Y, Fu XJ, Nozu Y, Kaito H, Kanda K, Matsuo M, Yoshikawa N.
    • Journal Title

      Nephrol Dial Transplant (in press)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Journal Article] Improved renal survival in Japanese children with IgA nephropathy

    • Author(s)
      Yata N, Nakanishi K, Shima Y, Togawa H, Obana M, Sako M, Nozu K, Tanaka R, Iijima K, Yoshikawa N.
    • Journal Title

      Pediatr Nephrol (in press)

    • Description
      「研究成果報告書概要(欧文)」より
  • [Presentation] Molecular Analysis of Digenic Inheritance in Type IV Bartter Syndrome Phenotype2007

    • Author(s)
      Nozu K., Kaito H., Nakanishi K., Yoshikawa N., Iijima K., Matsuo M
    • Organizer
      American Society of Nephrology 2007 Annual Meeting
    • Place of Presentation
      San Francisco
    • Year and Date
      2007-11-03
    • Description
      「研究成果報告書概要(和文)」より
  • [Presentation] Long term prognosis of severe childhood IgA nephropathy after combined therapy2007

    • Author(s)
      Kamei K., Iijima K., Honda M., Nakanishi K., Yoshikawa N
    • Organizer
      American Society of Nephrology 2007 Annual Meeting
    • Place of Presentation
      San Francisco
    • Year and Date
      2007-11-03
    • Description
      「研究成果報告書概要(和文)」より
  • [Presentation] Combination therapy with mizoribine for severe childhood IgA nephropathy: A pilot study2007

    • Author(s)
      Nakanishi K., Ishikura K., Hataya H., Ikeda M., Iijima K., Honda M., Yoshikawa N. The Japanese Pediatrie IgA Nephropathy Treatment Study Group
    • Organizer
      American Society of Nephrology 2007 Annual Meeting
    • Place of Presentation
      San Francisco
    • Year and Date
      2007-11-03
    • Description
      「研究成果報告書概要(和文)」より
  • [Presentation] Rituximab Therapy for Refractory Focal Segmental Glomerulosclerosis2007

    • Author(s)
      Nakayama M., Kamei K., Matsuoka K., Nakagawa A., Iijima K
    • Organizer
      American Society of Nephrology 2007 Annual Meeting
    • Place of Presentation
      San Francisco
    • Year and Date
      2007-11-03
    • Description
      「研究成果報告書概要(和文)」より
  • [Presentation] Genetic Backgrounds in Patients with Exercise-Induced Acute Renal Failure2007

    • Author(s)
      Kaito H., Nozu K., Kanda K., Nakanishi K., Yoshiya K., Iijima K., Yoshikawa N., Matsuo M
    • Organizer
      American Society of Nephrology 2007 Annual Meeting
    • Place of Presentation
      San Francisco
    • Year and Date
      2007-11-03
    • Description
      「研究成果報告書概要(和文)」より
  • [Presentation] Molecular Analysis of Diggenic Inheritance in Type IV Bartter Syndrome Phenotype2007

    • Author(s)
      Nozu K., Kaito H., Nakanishi K., Yoshikawa N., Iijima K., Matsuo M.
    • Organizer
      American Society of Nephrology 2007 Annual Meeting
    • Place of Presentation
      San Francisco
    • Year and Date
      2007-11-03
    • Description
      「研究成果報告書概要(欧文)」より
  • [Presentation] The Japanese Pediatric IgA Nephropathy Treatment Study Group. Combination therapy with mizoribine for severe childhood IgA nephropathy : Apilot study2007

    • Author(s)
      Nakanishi K., Ishikura K, Hataya H., Ikeda M., Iijima K., Honda M., Yoshikawa N.
    • Organizer
      American Society of Nephrology 2007 Annual Meeting
    • Place of Presentation
      San Francisco
    • Year and Date
      2007-11-03
    • Description
      「研究成果報告書概要(欧文)」より
  • [Presentation] Rituximab therapy for focal segmental glomerulosclerosis2007

    • Author(s)
      Nakayama M., Teramachi M., Kasahara K., Kamei K., Suzuki T., Matsuoka K., Nakagawa A., Iijima K
    • Organizer
      The 14th Congress of the International Pediatric Nephrology Association
    • Place of Presentation
      Budapest
    • Year and Date
      2007-09-02
    • Description
      「研究成果報告書概要(和文)」より
  • [Presentation] Long term prognosis of severe childhood IgA nephropathy after combined therapy2007

    • Author(s)
      Kamei K., Iijima K., Honda M., Nakanishi K., Yoshikawa N
    • Organizer
      The 14th Congress of the International Pediatric Nephrology Association
    • Place of Presentation
      Budapest
    • Year and Date
      2007-09-02
    • Description
      「研究成果報告書概要(和文)」より
  • [Presentation] Molecular analysis of 5 Japanese Patients with Type III Bartter Syndrome2007

    • Author(s)
      Nozu K., Nakanishi K., Yoshikawa N., Kaito H. Kanda K., Krol R., Satomura K., Shimizu N., Iijima K., Matsuo M
    • Organizer
      The 14th Congress of the International Pediatric Nephrology Association
    • Place of Presentation
      Budapest
    • Year and Date
      2007-09-02
    • Description
      「研究成果報告書概要(和文)」より
  • [Presentation] A 2-year, Prospective, Randomized, Multicenter Trial of Moderate-dose Cyclosporine in Children with Frequently Relapsing Nephrotic Syndrome2007

    • Author(s)
      Ishikura K., Ikeda M., Hattori S., Yoshikawa N., Sasaki S., Iijima K., Nakanishi K., Yata N., Honda M., for Japanese Study Group of Renal Disase in Children
    • Organizer
      The 14th Congress of the International Pediatric Nephrology Association
    • Place of Presentation
      Budapest
    • Year and Date
      2007-09-02
    • Description
      「研究成果報告書概要(和文)」より
  • [Presentation] Transient elevation of plasma antidiuretic hormone level after kidney biopsy associated with iatrogenic hyponatremia or postoperative nausea and vomit2007

    • Author(s)
      Kanda K., Nozu K., Kaito H., Krol R., Nakanishi K., Yoshikawa N., Iijima K., Matsuo M
    • Organizer
      The 14th Congress of the International Pediatric Nephrology Association
    • Place of Presentation
      Budapest
    • Year and Date
      2007-09-02
    • Description
      「研究成果報告書概要(和文)」より
  • [Presentation] Identification of 6 novel mutations in the COL4A5 gene of Japanese Patients with X-linked Alport syndrome2007

    • Author(s)
      Krol R., Nozu K., Kanda K., Kaito H., Nakanishi K., Yoshikawa N., Kamei K., Iijima K., Matsuo M
    • Organizer
      The 14th Congress of the International Pediatric Nephrology Association
    • Place of Presentation
      Budapest
    • Year and Date
      2007-09-02
    • Description
      「研究成果報告書概要(和文)」より
  • [Presentation] Combination therapy with mizoribine for severe childhood IgA nephropathy: A pilot study2007

    • Author(s)
      Nakanishi K., Ishikura K., Hataya H., Ikeda M., Iijima K., Honda M., Yoshikawa N
    • Organizer
      The 14th Congress of the International Pediatric Nephrology Association
    • Place of Presentation
      Budapest
    • Year and Date
      2007-09-02
    • Description
      「研究成果報告書概要(和文)」より
  • [Presentation] Long term prognosis of severe childhood IgAnephropathy after combined therapy2007

    • Author(s)
      Kamei K . Iijima K., Honda M., Nakanishi K., Yoshikawa N
    • Organizer
      The 14th Congress of the International Pediatric Nephrology Association
    • Place of Presentation
      Budapest
    • Year and Date
      2007-09-02
    • Description
      「研究成果報告書概要(欧文)」より
  • [Presentation] Molecular analysis of 5Japanese Patients with Type III Bartter Syndrome2007

    • Author(s)
      Nozu K., Nakanishi K, Yoshikawa N., Kaito H Kanda K, Krol R., Satomura K., Shimizu N., Iijima K, Matsuo M.
    • Organizer
      The 14th Congress of the International Pediatric Nephrology Association
    • Place of Presentation
      Budapest
    • Year and Date
      2007-09-02
    • Description
      「研究成果報告書概要(欧文)」より
  • [Presentation] for Japanese Study Group of Renal Disease in Children2007

    • Author(s)
      Ishikura K., Ikeda M., Hattori S., Yoshikawa N., Sasaki S., Iijima K., Nakanishi K., Yata N., Honda M.
    • Organizer
      The 14th Congress of the International Pediatric Nephrology Association
    • Place of Presentation
      Budapest
    • Year and Date
      2007-09-02
    • Description
      「研究成果報告書概要(欧文)」より
  • [Presentation] Combination therapy with mizoribine for severe childhood IgA nephropathy : A pilot study2007

    • Author(s)
      Nakanishi K., Ishikura K., Hataya H., Ikeda M., Iijima K., Honda M.,Yoshikawa N.
    • Organizer
      The 14th Congress of the International Pediatric Nephrology Association
    • Place of Presentation
      Budapest
    • Year and Date
      2007-09-02
    • Description
      「研究成果報告書概要(欧文)」より
  • [Presentation] 「Evidenceとなる臨床研究をおこなうために」厚生労働科学研究小児疾患臨床研究事業「小児腎移植におけるミコフェノール酸モフェチルの有効性・安全性の確認、用法・用量の検討・確立に関する研究(H17-小児-002)」2007

    • Author(s)
      飯島 一誠
    • Organizer
      第42回日本小児腎臓病学会学術集会
    • Place of Presentation
      横浜
    • Year and Date
      2007-06-29
    • Description
      「研究成果報告書概要(和文)」より
  • [Presentation] Clinical Research for Pediatric Renal Transplantation in Japan2007

    • Author(s)
      Iijima K.
    • Organizer
      The 42th Annual Meeting of Japanese Society for Pediatric Nephrology
    • Place of Presentation
      Yokohama
    • Year and Date
      2007-01-29
    • Description
      「研究成果報告書概要(欧文)」より
  • [Book] 講義録 小児科学:微小変化型ネフローゼ症候群、巣状糸球体硬化症、遺伝性腎症2008

    • Author(s)
      飯島 一誠
    • Total Pages
      789
    • Publisher
      メジカルレビュー社
    • Description
      「研究成果報告書概要(和文)」より
  • [Book] 小児科学 第3版:爪膝蓋骨症候群、Fabry病、ネフロン労2008

    • Author(s)
      飯島 一誠
    • Total Pages
      1855
    • Publisher
      医学書院
    • Description
      「研究成果報告書概要(和文)」より

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Published: 2010-02-04  

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