Associated Papers
New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP Registry.
Kishnani PS et al.
American Journal of Medical Genetics. Part A, 2024
Musculoskeletal pain and muscular weakness as the main symptoms of adult hypophosphatasia in a Spanish cohort: clinical characterization and identification of a new ALPL gene variant.
Calmarza P et al.
Journal of Bone and Mineral Metabolism, 2023
The structural pathology for hypophosphatasia caused by malfunctional tissue non-specific alkaline phosphatase.
Yu Y et al.
Nature Communications, 2023
Clinical and Genetic Characteristics of Hypophosphatasia in Chinese Adults.
Li X et al.
Genes, 2023
Systemic effects of hypophosphatasia characterization of two novel variants in the ALPL gene.
Martínez-Heredia L et al.
Frontiers in Endocrinology, 2023
Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.
Glotov OS et al.
International Journal of Molecular Sciences, 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
34633109 (PubMed )
Supplement: JBMR-37-202-s001.xlsx › Supplemental_Table_2
Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia.
Del Angel G et al.
Human Mutation, 2020
Multiple fractures, pain, and severe disability in a patient with adult-onset hypophosphatasia.
Braunstein NA
Bone Reports, 2016
Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients.
Whyte MP et al.
Bone, 2015
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