Associated Papers
Novel Insights From In Silico Analysis of Biallelic ALPL (c.1001G/A and c.571G/A) in Two Mennonite Families Leading to Hypophosphatasia.
Salinas-Torres VM et al.
Cureus, 2025
Phenotype and genotype of hypophosphatasia cases in Saudi Arabia: multi-center case cohort.
Alsagheir A et al.
Frontiers in Genetics, 2025
Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.
Glotov OS et al.
International Journal of Molecular Sciences, 2022
Urine phosphoethanolamine is a specific biomarker for hypophosphatasia in adults.
Shajani-Yi Z et al.
Bone, 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
35320273 (PubMed )
Supplement: pcbi.1010009.s009.xlsx › Sheet1
Exome sequencing and analysis of 454,787 UK Biobank participants.
Backman JD et al.
Nature, 2021
34662886 (PubMed )
Supplement: 41586_2021_4103_MOESM5_ESM.xlsx › SD2
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
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Genetic analysis of adults heterozygous for ALPL mutations.
Taillandier A et al.
Journal of Bone and Mineral Metabolism, 2018
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
Pathophysiology of hypophosphatasia and the potential role of asfotase alfa.
Orimo H
Therapeutics and Clinical Risk Management, 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
Hypophosphatasia: molecular diagnosis of Rathbun's original case.
Mumm S et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2001
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