Associated Papers
Identification of a Novel Compound Heterozygous Variant in the ALPL Gene Linked to Hypophosphatasia in a Chinese Family.
Lu R et al.
The Journal of Clinical Endocrinology and Metabolism, 2026
Revisiting the Genetics of Hypophosphatasia.
Kishnani PS et al.
Journal of Inherited Metabolic Disease, 2025
A novel dominant negative variant of ALPL induces hypophosphatasia.
Chen G et al.
Jbmr Plus, 2025
Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants.
Montero-Lopez R et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 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
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
The structural pathology for hypophosphatasia caused by malfunctional tissue non-specific alkaline phosphatase.
Yu Y et al.
Nature Communications, 2023
Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.
Glotov OS et al.
International Journal of Molecular Sciences, 2022
[Prevalence of hypophosphatasia in adult patients in rheumatology].
Karakostas P et al.
Zeitschrift Fur Rheumatologie, 2022
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
Dissecting mutational allosteric effects in alkaline phosphatases associated with different Hypophosphatasia phenotypes: An integrative computational investigation.
Xiao F et al.
Plos Computational Biology, 2022
Massive calcification around large joints in a patient subsequently diagnosed with adult-onset hypophosphatasia.
Koga M 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, 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
Prenatal enzyme replacement therapy for Akp2 -/- mice with lethal hypophosphatasia.
Hasegawa A et al.
Regenerative Therapy, 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
Hypophosphatasia: is it an underdiagnosed disease even by expert physicians?
İnci A et al.
Journal of Bone and Mineral Metabolism, 2021
Clinical and genetic characteristics of hypophosphatasia in Chinese children.
Liu M et al.
Orphanet Journal of Rare Diseases, 2021
Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia.
Jandl NM et al.
Calcified Tissue International, 2021
Potential pathological role of single nucleotide polymorphism (c.787T>C) in alkaline phosphatase (ALPL) for the phenotypes of hypophosphatasia.
Matsuda N et al.
Endocrine Journal, 2020
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
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
Clinical Significance of Hypophosphatasemia in Children.
Bayramli R et al.
Calcified Tissue International, 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
Incidence of Mutations in the ALPL, GGPS1, and CYP1A1 Genes in Patients With Atypical Femoral Fractures.
Peris P et al.
Jbmr Plus, 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
Rare Co-occurrence of Beta-Thalassemia and Pseudoxanthoma elasticum: Novel Biomolecular Findings.
Boraldi F et al.
Frontiers in Medicine, 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
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
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