Associated Papers
The ALPL gene variant project: results of the first 100 reclassified variants.
Farman MR et al.
Jbmr Plus, 2025
Efficacy of asfotase alfa in a patient with adult-onset hypophosphatasia without obvious bone lesions: a case report with review of literature.
Nishikage S et al.
Endocrine Journal, 2025
Newborn screening for hypophosphatasia: development of a high-throughput tissue nonspecific alkaline phosphatase activity assay using dried blood spots.
Noda Y et al.
Jbmr Plus, 2025
High Prevalence of Nephrocalcinosis in Hypophosphatasia Patients with the ALPL c.1559del Gene Variant.
Kawashima H et al.
Jma Journal, 2025
A Japanese single-center experience of the efficacy and safety of asfotase alfa in pediatric-onset hypophosphatasia.
Sugiyama Y et al.
Orphanet Journal of Rare Diseases, 2022
Novel mutation in the ALPL gene with a dominant negative effect in a Japanese family.
Kato M et al.
Journal of Bone and Mineral Metabolism, 2021
Association of ALPL variants with serum alkaline phosphatase and bone traits in the general Japanese population: The Nagahama Study.
Nagata M et al.
Journal of Human Genetics, 2020
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