Copy For Citation
SAĞLAM H., ERDÖL Ş., Dorum S.
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, vol.9, no.3, pp.229-236, 2017 (SCI-Expanded)
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Publication Type:
Article / Article
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Volume:
9
Issue:
3
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Publication Date:
2017
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Doi Number:
10.4274/jcrpe.4549
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Journal Name:
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
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Journal Indexes:
Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
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Page Numbers:
pp.229-236
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Keywords:
Turkish children, hypophosphatasia, ALKALINE-PHOSPHATASE GENE, MUTATIONS
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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.