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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My Journey with my Soft Bones: The only hint my parents had that something was wrong with me was my teeth. My baby teeth had…
Hi, we are twin sisters Amy and Suzanne, we have been dealing with symptoms of HPP for a lifetime. Our diagnosis seemed as though it…
We are all told to stay away from “Dr. Google”; however, in the case of our son’s diagnosis of Hypophosphatasia (HPP), we were glad that…
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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…
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