Clinical and Genetic Findings of Turkish Hypophosphatasia Cases

SAĞLAM H., ERDÖL Ş., Dorum S.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, vol.9, no.3, pp.229-236, 2017 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 9 Issue: 3
  • Publication Date: 2017
  • Doi Number: 10.4274/jcrpe.4549
  • Journal Name: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.229-236
  • Keywords: Turkish children, hypophosphatasia, ALKALINE-PHOSPHATASE GENE, MUTATIONS
  • Bursa Uludag University Affiliated: Yes

Abstract

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.