Clinical and Genetic Findings of Turkish Hypophosphatasia Cases

SAĞLAM, HALİL; ERDÖL, ŞAHİN; Dorum, Sevil

doi:10.4274/jcrpe.4549

Clinical and Genetic Findings of Turkish Hypophosphatasia Cases

SAĞLAM H., ERDÖL Ş., Dorum S.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.9, sa.3, ss.229-236, 2017 (SCI-Expanded, Scopus, TRDizin)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 9 Sayı: 3
Basım Tarihi: 2017
Doi Numarası: 10.4274/jcrpe.4549
Dergi Adı: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
Sayfa Sayıları: ss.229-236
Anahtar Kelimeler: Turkish children, hypophosphatasia, ALKALINE-PHOSPHATASE GENE, MUTATIONS
Bursa Uludağ Üniversitesi Adresli: Evet

Özet

Objective: Hypophosphatasia (HPP) is a rare, commonly unrecognized hereditary mineralization defect with a dramatically poor prognosis in severe cases. This study is the first to examine the detailed clinical and laboratory characteristics of patients with HPP and healthy carriers in Turkey.