Last Updated: 09/26/2026
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Found 70 publications
Editorial on "Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework".
Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: January 14, 2026
Burden of disease in US patients with skeletal versus muscular or pain manifestations of hypophosphatasia: An analysis from the Global HPP Registry.
Journal: Bone
Published: December 22, 2025
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.
Journal: medRxiv : the preprint server for health sciences
Published: December 03, 2025
Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype.
Journal: Nature communications
Published: October 17, 2025
Proceedings of the 2025 Santa Fe Bone Symposium: Current concepts in the care of patients with osteoporosis, parathyroid disorders, and rare bone diseases.
Journal: Journal of clinical densitometry : the official journal of the International Society for Clinical Densitometry
Published: September 21, 2025
The Global Hypophosphatasia Registry: lessons learned from a decade of real-world data.
Journal: Orphanet journal of rare diseases
Published: July 15, 2025
Key Learnings from Clinical Research and Real-World Evidence on Asfotase Alfa Effectiveness in Hypophosphatasia: 10 Years Post-Approval.
Journal: Advances in therapy
Published: April 04, 2025
Revisiting the Genetics of Hypophosphatasia.
Journal: Journal of inherited metabolic disease
Published: March 21, 2025
Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants.
Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
Published: March 15, 2025
The ALPL gene variant project: results of the first 100 reclassified variants.
Journal: JBMR plus
Published: January 12, 2025
Genetic characterization of a large cohort of individuals with a clinical suspicion of hypophosphatasia in the United States.
Journal: Molecular genetics and metabolism
Published: December 03, 2024
Diagnosis and Treatment of Hypophosphatasia.
Journal: Calcified tissue international
Published: November 24, 2024
Last Updated: 09/26/2026