Musculoskeletal and neurocognitive clinical significance of adult hypophosphatasia
Hypophosphatasia (HPP), also called Rathbun disease, is a rare genetic disorder that is caused by the loss-of-function mutation in the ALPL gene encoding tissue non-specific alkaline phosphatase. Doctor Rathbun first described the case of a 3-week-old infant who presented with severe osteopenia, ric...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-12-01
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| Series: | Osteoporosis and Sarcopenia |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2405525523001152 |