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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Elsevier,
2018-06-01T00:00:00Z.
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A1234.567 |
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