Systemic Effects of Hypophosphatasia. Characterization of Two Novel Variants in the Alpl Gene Margaret Robb November 22, 2023 0 Comments Print 🖨 PDF 📄 To read more please click on the link below. Read Article
Characterization of physical, functional, and cognitive performance in 15 adults with hypophosphatasia Print 🖨 PDF 📄 To read more please click on the link below. Read Article Denise Goodbar November 5, 2020 0 Comments
Perinatal Form Hypophosphatasia Caused by a Novel Large Duplication of ALPL Gene and One Year Follow-Up Under Enzyme Replacement Therapy; a Case Report. Print 🖨 PDF 📄 To read more please click on the link below. Read Article softbones October 28, 2020 0 Comments
Genetic characterization of a large cohort of individuals with a clinical suspicion of hypophosphatasia in the United States Print 🖨 PDF 📄 To read more please click on the link below. Read Article Denise Goodbar June 28, 2021 0 Comments
Compound Heterozygous PIGT Mutations in Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome: First Case in Korea and Characterization by Persistent Hypophosphatasia Print 🖨 PDF 📄 To read more please click on the link below. Read Article Denise Goodbar June 30, 2021 0 Comments
Large-scale in Vitro Functional Testing and Novel Variant Scoring via Protein Modeling Provide Insights Into Alkaline Phosphatase Activity in Hypophosphatasia Print 🖨 PDF 📄 To read more please click on the link below. Read Article softbones October 28, 2020 0 Comments
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