Hypophosphastasia (HPP): pathogenesis and current treatment options
Hypophosphatasia (HPP) is a rare, inherited, metabolic bone disease characterized by the abnormal development of bones and teeth, due to defective mineralization (1,2). HPP is caused by inactivating mutation(s) within the gene that encodes the tissue-nonspecific isozyme of alkaline phosphatase (TNSA...
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Language: | en_US |
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2018
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Online Access: | https://hdl.handle.net/2144/26886 |