Associated Papers
Hypophosphatasia: Low Penetrance of Pathogenic and Likely-Pathogenic ALPL Variants Identified Through an Unselected Biorepository.
Dahir KM et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025
Functional and In Silico Characterization of ALPL Gene Variants Reveals Genotype-Phenotype Correlations in Italian Hypophosphatasia Patients.
Casamassima G et al.
Cells, 2025
Evaluation of Low Alkaline Phosphatase Levels in Clinical Practice: Implications for Diagnosing Hypophosphatasia.
Buyukyilmaz G et al.
Calcified Tissue International, 2025
The ALPL gene variant project: results of the first 100 reclassified variants.
Farman MR et al.
Jbmr Plus, 2025
Genetic characterization of a large cohort of individuals with a clinical suspicion of hypophosphatasia in the United States.
Rush ET et al.
Molecular Genetics and Metabolism, 2025
Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia.
Cinque L et al.
Frontiers in Endocrinology, 2023
Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.
Scocchia A et al.
Orphanet Journal of Rare Diseases, 2021
34627339 (PubMed )
Supplement: 13023_2021_2025_MOESM1_ESM.xlsx › Sheet2
Clinical and molecular findings in children and young adults with persistent low alkaline phosphatase concentrations.
Araci MB et al.
Annals of Clinical Biochemistry, 2021
Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia.
Del Angel G et al.
Human Mutation, 2020
Select a paper to view details