Associated Papers
Safety and efficacy of long term asfotase alfa treatment in childhood hypophosphatasia.
d'Angelo DM et al.
Italian Journal of Pediatrics, 2025
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-s002.xlsx › Supplemental_table_2
Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene.
Spentchian M et al.
Human Mutation, 2003
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