Associated Papers
Neonatal Multiple Bone Fractures: A Case Report of Hypophosphatasia.
Homyani DKA et al.
Case Reports in Endocrinology, 2025
Phenotype and genotype of hypophosphatasia cases in Saudi Arabia: multi-center case cohort.
Alsagheir A et al.
Frontiers in Genetics, 2025
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
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE et al.
Genome Medicine, 2021
34645488 (PubMed )
Supplement: 13073_2021_973_MOESM1_ESM.xlsx › Sheet1
Clinical and Genetic Characterization of Craniosynostosis in Saudi Arabia.
Alghamdi M et al.
Frontiers in Pediatrics, 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
32160374 (PubMed )
Supplement: HUMU-41-1250-s002.xlsx › Supplemental_table_2
A homozygous missense variant in the alkaline phosphatase gene ALPL is associated with a severe form of canine hypophosphatasia.
Kyöstilä K et al.
Scientific Reports, 2019
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