Clinical and Genetic Findings of Turkish Hypophosphatasia Cases.

Abstract excerpt

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. METHODS: The study data were obtained retrospectively from the files of 10 healthy carriers and of 16 cases with HPP (12...

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