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., ...Daha Fazla

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

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.