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
Comprehensive treatment approaches for skeletal deformities in hypophosphatasia: a case study of ALPL gene variants.
Jiao Q et al.
Frontiers in Pediatrics, 2025
Hypophosphatasia: is it an underdiagnosed disease even by expert physicians?
İnci A et al.
Journal of Bone and Mineral Metabolism, 2021
Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals.
Nagaoka S et al.
Human Genome Variation, 2021
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
Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients.
Whyte MP et al.
Bone, 2015
Clinical and genetic aspects of hypophosphatasia in Japanese patients.
Taketani T et al.
Archives of Disease in Childhood, 2014
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