Hypophosphatasia: is it an underdiagnosed disease even by expert physicians?

İnci A., Ergin F. B., Yüce B. T., Çiftçi B., Demir E., Buyan N., ...More

JOURNAL OF BONE AND MINERAL METABOLISM, vol.39, no.4, pp.598-605, 2021 (SCI-Expanded, Scopus) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 39 Issue: 4
  • Publication Date: 2021
  • Doi Number: 10.1007/s00774-020-01193-z
  • Journal Name: JOURNAL OF BONE AND MINERAL METABOLISM
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CINAHL, EMBASE, MEDLINE
  • Page Numbers: pp.598-605
  • Keywords: Hypophosphatasia, Screening, Low-alkaline phosphatase, Musculoskeletal pain, Tooth abnormality, IN-UTERO, GENE
  • Gazi University Affiliated: Yes

Abstract

Introduction Hypophosphatasia (HPP) is caused by mutations in the ALPL that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (ALP). Clinical manifestations range from extreme life-threatening lethal forms to no signs or symptoms at all.