Hypophosphatasia: literature review and description of a clinical case of familial disease with molecular genetic verification of the diagnosis
Hypophosphatasia is a rare hereditary disease characterized by a very diverse clinical manifestations that can make it difficult to make a timely diagnosis. Due to the deficiency of alkaline phosphatase, multisystem disorders are observed in patients. First of all, these are bone changes (osteoporos...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
Open Systems Publication
2023-02-01
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| Series: | Лечащий Врач |
| Subjects: | |
| Online Access: | https://journal.lvrach.ru/jour/article/view/1017 |