کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3343586 1214432 2008 15 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Hypophosphatasia
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی ایمونولوژی، آلرژی و روماتولوژی
پیش نمایش صفحه اول مقاله
Hypophosphatasia
چکیده انگلیسی

Hypophosphatasia is a rare inherited disorder characterized by defective bone and tooth mineralization, and deficiency of serum and bone alkaline phosphatase activity. The frequency of the disease has been estimated to be one in 100 000 for severe forms, but mild forms of hypophosphatasia may be more common. The symptoms are highly variable in their clinical expression, which ranges from stillbirth without mineralized bone to early tooth loss without bone symptoms. The transmission of severe forms is autosomal recessive, while milder forms may be transmitted as dominant or recessive autosomal traits. The diagnosis is based on serum alkaline phosphatase assay and molecular analysis of the liver/bone/kidney alkaline phosphatase gene (ALPL). Currently, there is no treatment for the disease. Over the past 10 years, great progress has been made in understanding the structure of tissue non-specific alkaline phosphatase, its function in bone mineralization, and the effect of ALPL mutations responsible for hypophosphatasia.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Best Practice & Research Clinical Rheumatology - Volume 22, Issue 1, March 2008, Pages 113–127
نویسندگان
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