Associated Papers
Evaluation of Low Alkaline Phosphatase Levels in Clinical Practice: Implications for Diagnosing Hypophosphatasia.
Buyukyilmaz G et al.
Calcified Tissue International, 2025
Newborn screening for hypophosphatasia: development of a high-throughput tissue nonspecific alkaline phosphatase activity assay using dried blood spots.
Noda Y et al.
Jbmr Plus, 2025
Catalyzing precision: unraveling the diagnostic conundrum of tunisian familial hypophosphatasia case through integrative clinical and molecular approaches.
Amri Y et al.
Molecular Genetics and Genomics : Mgg, 2024
Reclassification of Variants Following Renal Genetics Testing: Uncommon Yet Impactful for Diagnosis and Management.
Lim E et al.
Kidney International Reports, 2024
38707809 (PubMed )
Supplement: mmc1.pdf
Black Patients Equally Benefit From Renal Genetics Evaluation but Substantial Barriers in Access Exist.
Borden C et al.
Kidney International Reports, 2023
37850009 (PubMed )
Supplement: mmc1.pdf
Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.
Glotov OS et al.
International Journal of Molecular Sciences, 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
Integrative genomic and transcriptomic analysis in plasmablastic lymphoma identifies disruption of key regulatory pathways.
Witte HM et al.
Blood Advances, 2022
34714908 (PubMed )
Supplement: advancesADV2021005486-suppl6.xlsx › Variants
Hypophosphatasia: is it an underdiagnosed disease even by expert physicians?
İnci A et al.
Journal of Bone and Mineral Metabolism, 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
Clinical Significance of Hypophosphatasemia in Children.
Bayramli R et al.
Calcified Tissue International, 2020
Perinatal Hypophosphatasia in a Premature Infant.
Sankaran D et al.
Ajp Reports, 2020
Hypophosphatasia in Japan: ALPL Mutation Analysis in 98 Unrelated Patients.
Michigami T et al.
Calcified Tissue International, 2020
Japanese nationwide survey of hypophosphatasia reveals prominent differences in genetic and dental findings between odonto and non-odonto types.
Okawa R et al.
Plos One, 2019
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