2025-01-22 13-09-07
Content
- Hypophosphatasia patients with ALPL variants can be identified based on Alkaline Phosphatase (ALP) < 25 IU/L and Pyridoxal 5'-Phosphate (PLP, Vitamin B6) > 180 nmol/L
References
| Original Sources1 | Citations |
|---|---|
| torneroBiochemicalAlgorithmIdentify2022 | Tornero, C., V. Navarro-Compán, A. Buño, K. E. Heath, M. Díaz-Almirón, A. Balsa, J. A. Tenorio, J. Quer, and P. Aguado. “Biochemical Algorithm to Identify Individuals with ALPL Variants among Subjects with Persistent Hypophosphatasaemia.” Orphanet Journal of Rare Diseases 17, no. 1 (December 2022): 1–11. https://doi.org/10.1186/s13023-022-02253-5. |