Scientific Publications

Scientific Publications

Whole genome sequencing in adults with clinical hallmarks of hypophosphatasia negative for ALPL variants

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Safety, pharmacokinetics, and pharmacodynamics of efzimfotase alfa, a second-generation enzyme replacement therapy: phase 1, dose-escalation study in adults with hypophosphatasia

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Prevalence of chondrocalcinosis and calcium pyrophosphate deposition disease in a cohort of adult patients with low alkaline phosphatase levels and a positive versus negative genetic ALPL study

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Gene Therapy for Hypophosphatasia: Current Management and Future

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Circulating Micro-RNAs in Patients with Hypophosphatasia Results of the first micro-RNA analysis in HPP

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Enzyme replacement therapy for hypophosphatasia — The current paradigm

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First reported magnesium pyrophosphate kidney stone prompts diagnosis of hypophosphatasia

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New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP Registry

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Improvement in quality of life after asfotase alfa treatment in adults with pediatric-onset hypophosphatasia: data from 5 patient-reported outcome measures

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Hypophosphatasia Presenting as a Chronic Diffuse Pain Syndrome with Extra-Articular Calcifications

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The US Hypophosphatasia Foundation
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Boonton, NJ 07005, USA.

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