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

İnci, ASLI; Ergin, FİLİZ; Yüce, Burcu; Çiftçi, Bahattin; Demir, ERCAN; Buyan, Necla; Okur, İLYAS; Biberoğlu, Gürsel; Öktem, RIDVAN; Tümer, LEYLA; Ezgü, FATİH

doi:10.1007/s00774-020-01193-z

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)

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.