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  • [Analysis of PHEX gene mutation in a hypophosphatasia pedigree.]
  • Ma M, Li H, Cai Y.SourceDepartment of Medical Cell Biology and Medical Genetics, Luzhou Medical College, Luzhou, Sichuan 646000, P. R. China. Email: luyimamingyi@163.com.
  • Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.Zhonghua Yi Xue Yi Chuan Xue Za Zhi.2013 Oct 10;30(5):582-584.
  • OBJECTIVE: To screen potential mutations of PHEX gene in a family featuring hypophosphatemic rickets in order to confirm the molecular diagnosis and pathogenetic mechanism.METHODS: Genomic DNA was extracted from peripheral venous blood samples. DNA sequence of PHEX gene was derived from UCSC databas
  • PMID 24078575
  • Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R.
  • Savoldi G, Izzi C, Signorelli M, Bondioni MP, Romani C, Lanzi G, Moratto D, Verdoni L, Pinotti M, Prefumo F, Superti-Furga A, Pilotta A.SourceLaboratory of Genetic Disorders of Childhood, A. Nocivelli Institute for Molecular Medicine, Department of Pathology, Spedali Civili, Brescia, Italy.
  • American journal of medical genetics. Part A.Am J Med Genet A.2013 Oct;161(10):2614-9. doi: 10.1002/ajmg.a.36115. Epub 2013 Aug 15.
  • Wave-shaped ribs were detected at prenatal ultrasound in a 20(+1) week female fetus. At birth, skeletal radiographs showed marked hypomineralization and suggested hypophosphatasia. However, elevated blood calcium and alkaline phosphatase excluded hypophosphatasia and raised the possibility of Jansen
  • PMID 23950054
  • Novel ALPL genetic alteration associated with an odontohypophosphatasia phenotype.
  • Martins L, Rodrigues TL, Ribeiro MM, Saito MT, Giorgetti AP, Casati MZ, Sallum EA, Foster BL, Somerman MJ, Nociti FH Jr.SourceDepartment of Prosthodontics and Periodontics, Division of Periodontics, Piracicaba Dental School, University of Campinas - UNICAMP, Piracicaba, SP, Brazil.
  • Bone.Bone.2013 Oct;56(2):390-7. doi: 10.1016/j.bone.2013.06.010. Epub 2013 Jun 19.
  • Hypophosphatasia (HPP) is an inherited disorder of mineral metabolism caused by mutations in ALPL, encoding tissue non-specific alkaline phosphatase (TNAP). Here, we report the molecular findings from monozygotic twins, clinically diagnosed with tooth-specific odontohypophosphatasia (odonto-HPP). Se
  • PMID 23791648


  • 低ホスファターゼ症の治療薬開発
  • 内分泌・糖尿病・代謝内科 = Endocrinology, diabetology & metabolism 42(3), 203-207, 2016-03
  • NAID 40020789857
  • 患者まで届いている再生医療 先天性骨系統疾患に対する同種間葉系幹細胞移植 : 重症低フォスファターゼ症に対する骨髄移植併用同種間葉系幹細胞移植
  • 再生医療 : 日本再生医療学会雑誌 13(4), 400-406, 2014-11
  • NAID 40020285235
  • 歯科的所見により低フォスファターゼ症の診断に至った姉弟の2例


どんな病気 Hypophosphatasia 患者会 About Us 先生の紹介 Doctor 最新の情報 news 会員ページ Menbers BBS どんな病気なの? 初めて聞く希少難病の”低フォスファターゼ症(低ホスファターゼ症)”について、わかりやすく、簡単に説明 ...
Hypophosphatasia (HPP) is a serious, progressive, and lifelong disease that can damage bones and organs. ... THINK YOU OR YOUR CHILD MAY HAVE HPP? Create your own HPP symptom tracker, and use it to speak with your ...


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