Associated Papers
Lifetime follow-up of an adult patient with pediatric-onset hypophosphatasia complicated with advanced chronic kidney disease.
Sääf M et al.
Bone Reports, 2025
The ALPL gene variant project: results of the first 100 reclassified variants.
Farman MR et al.
Jbmr Plus, 2025
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
Prevalence of chondrocalcinosis and calcium pyrophosphate deposition disease in a cohort of adult patients with low alkaline phosphatase levels and a positive versus negative genetic ALPL study.
Tornero C et al.
Jbmr Plus, 2024
The structural pathology for hypophosphatasia caused by malfunctional tissue non-specific alkaline phosphatase.
Yu Y et al.
Nature Communications, 2023
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
Biochemical, clinical and genetic characteristics in adults with persistent hypophosphatasaemia; Data from an endocrinological outpatient clinic in Denmark.
Hepp N et al.
Bone Reports, 2021
Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children.
Vogt M et al.
Orphanet Journal of Rare Diseases, 2020
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
Clinical and genetic aspects of mild hypophosphatasia in Japanese patients.
Yokoi K et al.
Molecular Genetics and Metabolism Reports, 2019
Epidemiological, Clinical and Genetic Study of Hypophosphatasia in A Spanish Population: Identification of Two Novel Mutations in The Alpl Gene.
García-Fontana C et al.
Scientific Reports, 2019
Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.
Tenorio J et al.
American Journal of Medical Genetics. Part A, 2017
Clinical, biochemical and genetic spectrum of low alkaline phosphatase levels in adults.
Riancho-Zarrabeitia L et al.
European Journal of Internal Medicine, 2016
A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012.
Cui Y et al.
Orphanet Journal of Rare Diseases, 2012
Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles.
Fauvert D et al.
Bmc Medical Genetics, 2009
Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia.
Michigami T et al.
European Journal of Pediatrics, 2005