Associated Papers
Revisiting the Genetics of Hypophosphatasia.
Kishnani PS et al.
Journal of Inherited Metabolic Disease, 2025
Musculoskeletal pain and muscular weakness as the main symptoms of adult hypophosphatasia in a Spanish cohort: clinical characterization and identification of a new ALPL gene variant.
Calmarza P et al.
Journal of Bone and Mineral Metabolism, 2023
Urine phosphoethanolamine is a specific biomarker for hypophosphatasia in adults.
Shajani-Yi Z et al.
Bone, 2022
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6
Multigenerational case examples of hypophosphatasia: Challenges in genetic counseling and disease management.
Huggins E et al.
Molecular Genetics and Metabolism Reports, 2020
Neonatal lethal hypophosphatasia: A case report and review of literature.
Castells L et al.
Medicine, 2018
Enzyme-replacement therapy in life-threatening hypophosphatasia.
Whyte MP et al.
The New England Journal of Medicine, 2012
Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations.
Brun-Heath I et al.
Molecular Genetics and Metabolism, 2005
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