Art

J-GLOBAL ID：202002260585054757   Reference number：20A0751910

Clinical Practice Guidelines for Hypophosphatasia*

低ホスファターゼ血症の臨床診療ガイドライン

Author (24)： Michigami Toshimi (Department of Bone and Mineral Research, Research Institute, Osaka Women’s and Children’s Hospital, Osaka Prefectural Hospital Organization, Osaka, Japan) ,  Michigami Toshimi (Task Force for Hypophosphatasia Guidelines) ,  Ohata Yasuhisa (Task Force for Hypophosphatasia Guidelines) ,  Ohata Yasuhisa (Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan) ,  Fujiwara Makoto (Task Force for Hypophosphatasia Guidelines) ,  Fujiwara Makoto (Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan) ,  Mochizuki Hiroshi (Task Force for Hypophosphatasia Guidelines) ,  Mochizuki Hiroshi (Division of Endocrinology and Metabolism, Saitama Children’s Medical Center, Saitama, Japan) ,  Adachi Masanori (Task Force for Hypophosphatasia Guidelines) ,  Adachi Masanori (Department of Endocrinology and Metabolism, Kanagawa Children’s Medical Center, Kanagawa, Japan) ,  Kitaoka Taichi (Task Force for Hypophosphatasia Guidelines) ,  Kitaoka Taichi (Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan) ,  Kubota Takuo (Task Force for Hypophosphatasia Guidelines) ,  Kubota Takuo (Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan) ,  Sawai Hideaki (Task Force for Hypophosphatasia Guidelines) ,  Sawai Hideaki (Department of Obstetrics and Gynecology, Hyogo College of Medicine, Hyogo, Japan) ,  Namba Noriyuki (Task Force for Hypophosphatasia Guidelines) ,  Namba Noriyuki (Division of Pediatrics and Perinatology, Tottori University Faculty of Medicine, Tottori, Japan) ,  Hasegawa Kosei (Task Force for Hypophosphatasia Guidelines) ,  Hasegawa Kosei (Department of Pediatrics, Okayama University Hospital, Okayama, Japan) ,  Fujiwara Ikuma (Task Force for Hypophosphatasia Guidelines) ,  Fujiwara Ikuma (Department of Pediatrics, Sendai City Hospital, Miyagi, Japan) ,  Ozono Keiichi (Task Force for Hypophosphatasia Guidelines) ,  Ozono Keiichi (Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan)
Material： Clinical Pediatric Endocrinology (Web)
Volume： 29  Issue： 1  Page： 9-24(J-STAGE)  Publication year： 2020 
JST Material Number： U2150A  ISSN： 1347-7358  Document type： Article
Article type： 短報  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： *inborn errors of metal metabolism ,...
Semi thesaurus term： PubMed ,...

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Author keywords (4)： hypophosphatasia ,  systematic review ,  enzyme replacement therapy ,  guideline

JST classification (4)： Metabolic diseases,nutritional diseases in general.  (GD05010J) ,  Treatment for metabolic diseases,nutritional diseases.  (GD05030F) ,  Congenital diseases,deformities in general.  (GD03010V) ,  Musculoskeletal diseases  (GG03000T)

Reference (48)：

• 1. Mornet, E. Hypophosphatasia. Best Pract Res Clin Rheumatol 2008;22: 113-27.
• 2. Whyte, MP. Hypophosphatasia: An overview For 2017. Bone 2017;102: 15-25.
• 3. Watanabe, A, Karasugi, T, Sawai, H, Naing, BT, Ikegawa, S, Orimo, H, et al. Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers. J Hum Genet 2011;56: 166-8.
• 4. Ozono, K, Michigami, T. Hypophosphatasia now draws more attention of both clinicians and researchers: a commentary on Prevalence of c. 1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasias in Japanese and effects of the mutation on heterozygous carriers. J Hum Genet 2011;56: 174-6.
• 5. Michigami, T, Uchihashi, T, Suzuki, A, Tachikawa, K, Nakajima, S, Ozono, K. Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia. Eur J Pediatr 2005;164: 277-82.

Terms in the title (3)： 低ホスファターゼ血症 ,  臨床 ,  診療ガイドライン