Associated Papers
Hypophosphatasia - Pathophysiological understanding, preclinical data looking beyond the skeleton, and upcoming treatments.
Millán JL
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025
Dental manifestations of hypophosphatasia: translational and clinical advances.
Lira Dos Santos EJ et al.
Jbmr Plus, 2025
Dentoalveolar Defects of Hypophosphatasia are Recapitulated in a Sheep Knock-In Model.
Mohamed FF et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022
Dissecting mutational allosteric effects in alkaline phosphatases associated with different Hypophosphatasia phenotypes: An integrative computational investigation.
Xiao F et al.
Plos Computational Biology, 2022
Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program.
Rush ET et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022
Tissue-Nonspecific Alkaline Phosphatase, a Possible Mediator of Cell Maturation: Towards a New Paradigm.
Sato M et al.
Cells, 2021
Dental defects in the primary dentition associated with hypophosphatasia from biallelic ALPL mutations.
Kramer K et al.
Bone, 2021
Insights into dental mineralization from three heritable mineralization disorders.
Chavez MB et al.
Journal of Structural Biology, 2020
Genetic engineering a large animal model of human hypophosphatasia in sheep.
Williams DK et al.
Scientific Reports, 2018
Brief Clinical Report: Hypophosphatasia-Diagnostic Considerations and Treatment Outcomes in an Infant.
Duffus S et al.
Case Reports in Pediatrics, 2018
Childhood hypophosphatasia with homozygous mutation of ALPL.
Ukarapong S et al.
Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists, 2014
Enzyme-replacement therapy in life-threatening hypophosphatasia.
Whyte MP et al.
The New England Journal of Medicine, 2012