SUN-349 Characterizing Functional Performance in Adults with Hypophosphatasia
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Characterization of physical, functional, and cognitive performance in 15 adults with hypophosphatasia
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In the spring of 2020, I was officially diagnosed with Hypophosphatasia through genetic testing. In retrospect, the signs and symptoms have been evident since my…
Large-scale in Vitro Functional Testing and Novel Variant Scoring via Protein Modeling Provide Insights Into Alkaline Phosphatase Activity in Hypophosphatasia
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SUN-353 Physical and Cognitive Functioning Before and Six Months After Initiating Enzyme Replacement Therapy for an Adult with Hypophosphatasia: A Case Study
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SUN-LB64 Urine Phosphoethanolamine Is an Underutilized Biomarker for Hypophosphastasia
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