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...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | Spanish |
| Published: |
Elsevier
2018-06-01
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| Series: | Anales de Pediatría (English Edition) |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2341287918300668 |