Hypophosphatasia: Clinical manifestations, diagnostic recommendations and therapeutic options
Hypophosphatasia is a very rare bone metabolism disorder caused by a deficiency in alkaline phosphatase activity, due to mutations in the ALPL gene. Its clinical hallmark is the impairment of skeletal and tooth mineralization, although extra-skeletal manifestations are frequent. Its phenotypic spect...
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| Main Authors: | , , , |
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| Format: | Book |
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Elsevier,
2018-06-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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Internet
Connect to this object online.3rd Floor Main Library
| Call Number: |
A1234.567 |
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| Copy 1 | Available |