Prevalence of low alkaline phosphatase activity in laboratory assessment: Is hypophosphatasia an underdiagnosed disease?
Abstract Background Tissue-nonspecific alkaline phosphatase (TNSALP) encoded by the ALPL gene is of particular importance for bone mineralization. Mutation in the ALPL gene can lead to persistent low ALP activity resulting in the rare disease Hypophosphatasia (HPP) that is characterized by disturbed...
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| Автори: | , , , , |
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| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
BMC
2021-10-01
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| Серія: | Orphanet Journal of Rare Diseases |
| Предмети: | |
| Онлайн доступ: | https://doi.org/10.1186/s13023-021-02084-w |
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