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) identifier identifier identifier

  • 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.