Associated Papers
Dissecting mutational allosteric effects in alkaline phosphatases associated with different Hypophosphatasia phenotypes: An integrative computational investigation.
Xiao F et al.
Plos Computational Biology, 2022
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
32160374 (PubMed )
Supplement: HUMU-41-1250-s002.xlsx › Supplemental_table_2
Genetic analysis of adults heterozygous for ALPL mutations.
Taillandier A et al.
Journal of Bone and Mineral Metabolism, 2018
Healthcare resource utilization in the management of hypophosphatasia in three patients displaying a spectrum of manifestations.
Daniel AB et al.
Orphanet Journal of Rare Diseases, 2018
Enzyme-replacement therapy in life-threatening hypophosphatasia.
Whyte MP et al.
The New England Journal of Medicine, 2012
Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia.
Whyte MP et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2009
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