Associated Papers
Functional and In Silico Characterization of ALPL Gene Variants Reveals Genotype-Phenotype Correlations in Italian Hypophosphatasia Patients.
Casamassima G et al.
Cells, 2025
The ALPL gene variant project: results of the first 100 reclassified variants.
Farman MR et al.
Jbmr Plus, 2025
Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia.
Cinque L et al.
Frontiers in Endocrinology, 2023
Urine phosphoethanolamine is a specific biomarker for hypophosphatasia in adults.
Shajani-Yi Z et al.
Bone, 2022
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