Article
Hypophosphatasia.
Orphanet journal of rare diseases - 4 Oct 2007
Mornet Etienne
Abstract excerpt
Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth mineralization, and deficiency of serum and bone alkaline phosphatase activity. The prevalence of severe forms of the disease has been estimated at 1/100 000. The symptoms are highly variable in their clinical expression, which ranges from stillbirth without mineralized bone to early loss of teeth without bone symptoms....
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