Associated Papers
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
Identification of Genetic Variants in Status Epilepticus Associated With Fever.
Hanafusa H et al.
Brain and Behavior, 2025
High Prevalence of Nephrocalcinosis in Hypophosphatasia Patients with the ALPL c.1559del Gene Variant.
Kawashima H et al.
Jma Journal, 2025
Adult hypophosphatasia presenting with recurrent acute joint pain.
Yoshida H et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2025
Six-year clinical outcomes of enzyme replacement therapy for perinatal lethal and infantile hypophosphatasia in Korea: Two case reports.
Kim I et al.
Medicine, 2023
Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia.
Cinque L et al.
Frontiers in Endocrinology, 2023
Hearing impairment improved after treatment with asfotase alfa in a case of perinatal hypophosphatasia.
Chida-Naomiya R et al.
Molecular Genetics and Metabolism Reports, 2020
Association of ALPL variants with serum alkaline phosphatase and bone traits in the general Japanese population: The Nagahama Study.
Nagata M et al.
Journal of Human Genetics, 2020
Clinical and genetic aspects of mild hypophosphatasia in Japanese patients.
Yokoi K et al.
Molecular Genetics and Metabolism Reports, 2019
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
Discordant fetal phenotype of hypophosphatasia in two siblings.
Ikenoue S et al.
American Journal of Medical Genetics. Part A, 2018
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201
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