Associated Papers
Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia.
Jandl NM et al.
Calcified Tissue International, 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-s001.xlsx › Supplemental_table_1
Pyridoxal 5'-phosphate and related metabolites in hypophosphatasia: Effects of enzyme replacement therapy.
Akiyama T et al.
Molecular Genetics and Metabolism, 2018
Select a paper to view details