Scientific Publications

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Scientific Publications

Tissue nonspecific and intestinal alkaline phosphatase crosstalk: a missing link in hypophosphatasia pathophysiology?

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Hypophosphatasia: low penetrance of pathogenic and likely-pathogenic ALPL variants identified through an unselected biorepository

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The Global Hypophosphatasia Registry: lessons learned from a decade of real-world data

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Change in fracture rate and healthcare resource utilization among patients with hypophosphatasia following initiation of asfotase alfa: a retrospective US claims database analysis

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Revisiting the Genetics of Hypophosphatasia

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Hypophosphatasia—pathophysiological understanding, preclinical data looking beyond the skeleton, and upcoming treatments

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AI-assisted phenotyping in a zebrafish hypophosphatasia model enables early and precise detection of skeletal alterations

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The Challenge of Hypophosphatasia Diagnosis in Patients with Fibromyalgia

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Pathophysiology of Femoral Fractures in Hypophosphatasia

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Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants

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