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
ALPL Genotypes in Patients With Atypical Femur Fractures or Other Biochemical and Clinical Signs of Hypophosphatasia.
Marini F et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Clinical, biochemical and genetic findings in adult patients with chronic hypophosphatasemia.
Guarnieri V et al.
Journal of Endocrinological Investigation, 2022
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
Polymorphic variants of alkaline phosphatase gene correlate with clinical signs of adult hypophosphatasia?
Masi L et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2021
Novel mutation in the ALPL gene with a dominant negative effect in a Japanese family.
Kato M et al.
Journal of Bone and Mineral Metabolism, 2021
Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia.
Jandl NM et al.
Calcified Tissue International, 2021
Intrafamilial phenotypic distinction of hypophosphatasia with identical tissue nonspecific alkaline phosphatase gene mutation: a family report.
Kato M et al.
Journal of Bone and Mineral Metabolism, 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
Identification of a p.Arg708Gln variant in COL1A2 in atypical femoral fractures.
Funck-Brentano T et al.
Joint Bone Spine, 2017
Genetic evaluations of Chinese patients with odontohypophosphatasia resulting from heterozygosity for mutations in the tissue-non-specific alkaline phosphatase gene.
Wan J et al.
Oncotarget, 2017
Hypophosphatasia and the risk of atypical femur fractures: a case-control study.
Bhattacharyya T et al.
Bmc Musculoskeletal Disorders, 2016
Non-Invasive Prenatal Diagnosis of Lethal Skeletal Dysplasia by Targeted Capture Sequencing of Maternal Plasma.
Dan S et al.
Plos One, 2016
Functional characterization of a novel mutation localized in the start codon of the tissue-nonspecific alkaline phosphatase gene.
Mentrup B et al.
Bone, 2011
Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles.
Fauvert D et al.
Bmc Medical Genetics, 2009
Molecular effects of the tissue-nonspecific alkaline phosphatase gene polymorphism (787T > C) associated with bone mineral density.
Sogabe N et al.
Biomedical Research (tokyo, Japan), 2008
A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene.
Brun-Heath I et al.
Clinical Genetics, 2008
Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy.
Girschick HJ et al.
Bmc Pediatrics, 2007
Functional analysis of the single nucleotide polymorphism (787T>C) in the tissue-nonspecific alkaline phosphatase gene associated with BMD.
Goseki-Sone M et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2005
Importance of deletion of T at nucleotide 1559 in the tissue-nonspecific alkaline phosphatase gene in Japanese patients with hypophosphatasia.
Orimo H et al.
Journal of Bone and Mineral Metabolism, 2002