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adult hypophosphatasia with a single heterozygous c 572a g p glu191gly mutation in the alpl gene case report
Original title: “Adult Hypophosphatasia with a Single Heterozygous c.572A>G p.Glu191Gly Mutation in the ALPL gene: Case Report.”
osteoglycin and sclerostin imbalance in hypophosphatasia bone derived markers of mineralization and systemic involvement
Original title: “Osteoglycin and Sclerostin Imbalance in Hypophosphatasia: Bone-Derived Markers of Mineralization and Systemic Involvement.”
low alkaline phosphatase in adults implications for the diagnosis of hypophosphatasia during evaluation for osteoporosis
Original title: “Low alkaline phosphatase in adults: implications for the diagnosis of hypophosphatasia during evaluation for osteoporosis.”
seventeen year follow up of hypophosphatasia diagnosed in middle aged siblings harboring a novel intronic and a rare missense alpl gene mutation
Original title: “Seventeen-year follow-up of hypophosphatasia diagnosed in middle-aged siblings harboring a novel intronic and a rare missense ALPL gene mutation.”
integrated genetic and biochemical approach to patients with bone disorders exhibiting low alkaline phosphatase
Original title: “Integrated Genetic and Biochemical Approach to Patients with Bone Disorders Exhibiting Low Alkaline Phosphatase.”
effects of comorbid chronic kidney disease on late onset hypophosphatasia mice under treatment with asfotase alfa
Original title: “Effects of comorbid chronic kidney disease on late-onset hypophosphatasia mice under treatment with asfotase alfa.”
bilateral healing of pseudofractures in hypophosphatasia with teriparatide a case report
Original title: “Bilateral healing of pseudofractures in hypophosphatasia with teriparatide: a case report.”
external validation of the proposed diagnostic criteria for hypophosphatasia in adults of a spanish cohort
Original title: “External validation of the proposed diagnostic criteria for hypophosphatasia in adults of a Spanish cohort.”