Associated Papers
Newborn screening for hypophosphatasia: development of a high-throughput tissue nonspecific alkaline phosphatase activity assay using dried blood spots.
Noda Y et al.
Jbmr Plus, 2025
Screening for Hypophosphatasia in Adult Patients at a Maximum Care Provider-Retrospective Analyses over Fifteen Years.
Hennings R et al.
Journal of Clinical Medicine, 2024
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
Catalyzing precision: unraveling the diagnostic conundrum of tunisian familial hypophosphatasia case through integrative clinical and molecular approaches.
Amri Y et al.
Molecular Genetics and Genomics : Mgg, 2024
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
[Prevalence of hypophosphatasia in adult patients in rheumatology].
Karakostas P et al.
Zeitschrift Fur Rheumatologie, 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
Clinical and genetic characteristics of hypophosphatasia in Chinese children.
Liu M et al.
Orphanet Journal of Rare Diseases, 2021
Case Report: Variations in the ALPL Gene in Chinese Patients With Hypophosphatasia.
Zhang Q et al.
Frontiers in Genetics, 2021
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
Case Report: Efficacy of Reduced Doses of Asfotase Alfa Replacement Therapy in an Infant With Hypophosphatasia Who Lacked Severe Clinical Symptoms.
Fujisawa Y et al.
Frontiers in Endocrinology, 2020
Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review.
Mao X et al.
Bmc Pediatrics, 2019
Lethal perinatal hypophosphatasia caused by a novel compound heterozygous mutation: a case report.
Yu F et al.
Bmc Pediatrics, 2019
Genetic analysis of adults heterozygous for ALPL mutations.
Taillandier A et al.
Journal of Bone and Mineral Metabolism, 2018
Four novel mutations in the ALPL gene in Chinese patients with odonto, childhood, and adult hypophosphatasia.
Xu L et al.
Bioscience Reports, 2018
Clinical, radiographic and biochemical characteristics of adult hypophosphatasia.
Schmidt T et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2017
Molecular evolution of the tissue-nonspecific alkaline phosphatase allows prediction and validation of missense mutations responsible for hypophosphatasia.
Silvent J et al.
The Journal of Biological Chemistry, 2014