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

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

JOURNAL OF BONE AND MINERAL METABOLISM, cilt.39, sa.4, ss.598-605, 2021 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 39 Sayı: 4
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1007/s00774-020-01193-z
  • Dergi Adı: JOURNAL OF BONE AND MINERAL METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CINAHL, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.598-605
  • Anahtar Kelimeler: Hypophosphatasia, Screening, Low-alkaline phosphatase, Musculoskeletal pain, Tooth abnormality, IN-UTERO, GENE
  • Gazi Üniversitesi Adresli: Evet

Özet

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.