文献

J-GLOBAL ID：202002255371119259   整理番号：20A0751911

軟骨形成不全症の臨床診療ガイドライン

Clinical Practice Guidelines for Achondroplasia*

著者 (18件)： Kubota Takuo (Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan) ,  Kubota Takuo (Guidelines Development Committee for Achondroplasia) ,  Adachi Masanori (Guidelines Development Committee for Achondroplasia) ,  Adachi Masanori (Department of Endocrinology and Metabolism, Kanagawa Children’s Medical Center, Yokohama, Japan) ,  Kitaoka Taichi (Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan) ,  Kitaoka Taichi (Guidelines Development Committee for Achondroplasia) ,  Hasegawa Kosei (Guidelines Development Committee for Achondroplasia) ,  Hasegawa Kosei (Department of Pediatrics, Okayama University Graduate School of Medicine, Dentistry and Pharmacological Sciences, Okayama, Japan) ,  Ohata Yasuhisa (Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan) ,  Ohata Yasuhisa (Guidelines Development Committee for Achondroplasia) ,  Fujiwara Makoto (Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan) ,  Fujiwara Makoto (Guidelines Development Committee for Achondroplasia) ,  Michigami Toshimi (Guidelines Development Committee for Achondroplasia) ,  Michigami Toshimi (Department of Bone and Mineral Research, Research Institute, Osaka Women’s and Children’s Hospital, Osaka Prefectural Hospital Organization, Osaka, Japan) ,  Mochizuki Hiroshi (Guidelines Development Committee for Achondroplasia) ,  Mochizuki Hiroshi (Division of Endocrinology and Metabolism, Saitama Children’s Medical Center, Saitama, Japan) ,  Ozono Keiichi (Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan) ,  Ozono Keiichi (Guidelines Development Committee for Achondroplasia)
資料名： Clinical Pediatric Endocrinology (Web)  (Clinical Pediatric Endocrinology (Web))
巻： 29  号： 1  ページ： 25-42(J-STAGE)  発行年： 2020年 
JST資料番号： U2150A  ISSN： 1347-7358  資料種別： 逐次刊行物 (A)
記事区分： 短報  発行国： 日本 (JPN)  言語： 英語 (EN)

抄録/ポイント： 軟骨形成不全症(ACH)は,四肢短縮,低身長症,および特徴的...

シソーラス用語： ヒト ,...
準シソーラス用語： FGFR3 ,...

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著者キーワード (3件)： 軟骨形成不全症 ,  系統的レビュー ,  ガイドライン

分類 (4件)： 運動器系の疾患  (GG03000T) ,  先天性疾患・奇形一般  (GD03010V) ,  内分泌系の疾患  (GL03000I) ,  小児科学一般  (GC08010B)

引用文献 (79件)：

• 1. Horton, WA, Hall, JG, Hecht, JT. Achondroplasia. Lancet 2007;370: 162-72.
• 2. Unger, S, Bonafé, L, Gouze, E. Current care and investigational therapies in achondroplasia. Curr Osteoporos Rep 2017;15: 53-60.
• 3. Waller, DK, Correa, A, Vo, TM, Wang, Y, Hobbs, C, Langlois, PH, et al. The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US. Am J Med Genet A 2008;146A: 2385-9.
• 4. Wright, MJ, Irving, MD. Clinical management of achondroplasia. Arch Dis Child 2012;97: 129-34.
• 5. Trotter, TL, Hall, JG, American Academy of Pediatrics Committee on Genetics. Health supervision for children with achondroplasia. Pediatrics 2005;116: 771-83.

タイトルに関連する用語 (3件)： 軟骨形成不全症 ,  臨床 ,  診療ガイドライン