Associated Papers
Hypophosphatasia in children: From low alkaline phosphatase activity to diagnosis, genetic testing, and treatment options. A narrative review.
Lipiński P et al.
Advances in Clinical and Experimental Medicine : Official Organ Wroclaw Medical University, 2026
Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants.
Wild KT et al.
Genetics in Medicine Open, 2026
Genetic characterization of a large cohort of individuals with a clinical suspicion of hypophosphatasia in the United States.
Rush ET et al.
Molecular Genetics and Metabolism, 2025
Phenotype and genotype of hypophosphatasia cases in Saudi Arabia: multi-center case cohort.
Alsagheir A et al.
Frontiers in Genetics, 2025
New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP Registry.
Kishnani PS et al.
American Journal of Medical Genetics. Part A, 2024
First reported magnesium pyrophosphate kidney stone prompts diagnosis of hypophosphatasia.
Araya CE et al.
Urology Case Reports, 2024
Musculoskeletal and neurocognitive clinical significance of adult hypophosphatasia.
Kim SM et al.
Osteoporosis and Sarcopenia, 2023
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
Urine phosphoethanolamine is a specific biomarker for hypophosphatasia in adults.
Shajani-Yi Z et al.
Bone, 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
Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program.
Rush ET et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022
Investigation of ALPL variant states and clinical outcomes: An analysis of adults and adolescents with hypophosphatasia treated with asfotase alfa.
Kishnani PS et al.
Molecular Genetics and Metabolism, 2021
Clinical and genetic characteristics of hypophosphatasia in Chinese children.
Liu M et al.
Orphanet Journal of Rare Diseases, 2021
Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation.
Mornet E et al.
European Journal of Human Genetics : Ejhg, 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
Pharmacodynamics of asfotase alfa in adults with pediatric-onset hypophosphatasia.
Seefried L et al.
Bone, 2021
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
Effect of Asfotase Alfa on Muscle Weakness in a Japanese Adult Patient of Hypophosphatasia with Low ALP Levels.
Koyama H et al.
Internal Medicine (tokyo, Japan), 2020
Hypophosphatasia in Japan: ALPL Mutation Analysis in 98 Unrelated Patients.
Michigami T et al.
Calcified Tissue International, 2020
No vascular calcification on cardiac computed tomography spanning asfotase alfa treatment for an elderly woman with hypophosphatasia.
Whyte MP et al.
Bone, 2019
Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report.
Fukushima K et al.
Journal of Medical Case Reports, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Genetic engineering a large animal model of human hypophosphatasia in sheep.
Williams DK et al.
Scientific Reports, 2018
Hypophosphatasia: A rare disorder.
Hicks RW et al.
Journal of the American Association of Nurse Practitioners, 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
Mutational and biochemical findings in adults with persistent hypophosphatasemia.
McKiernan FE 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, 2017
Hypophosphatasia: Enzyme Replacement Therapy Brings New Opportunities and New Challenges.
Whyte MP
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2017
Case series: Odontohypophosphatasia or missed diagnosis of childhood/adult-onset hypophosphatasia? - Call for a long-term follow-up of premature loss of primary teeth.
Mori M et al.
Bone Reports, 2016
Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment.
Whyte MP
Nature Reviews. Endocrinology, 2016
Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients.
Whyte MP et al.
Bone, 2015
Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia.
Hofmann C et al.
European Journal of Human Genetics : Ejhg, 2014
[Infantile hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase gene].
Zhao Z et al.
Zhonghua Nei Ke Za Zhi, 2013
Characterization of six missense mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in Chinese children with hypophosphatasia.
Yang H et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2013
Enzyme-replacement therapy in life-threatening hypophosphatasia.
Whyte MP et al.
The New England Journal of Medicine, 2012
Functional evaluation of mutations in the tissue-nonspecific alkaline phosphatase gene.
Zhu T et al.
The Chinese Journal of Dental Research, 2012
Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review).
Wenkert D et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2011
Functional characterization of a novel mutation localized in the start codon of the tissue-nonspecific alkaline phosphatase gene.
Mentrup B et al.
Bone, 2011
Molecular characterization of tissue-nonspecific alkaline phosphatase with an Ala to Thr substitution at position 116 associated with dominantly inherited hypophosphatasia.
Ishida Y et al.
Biochimica Et Biophysica Acta, 2011
Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers.
Watanabe A et al.
Journal of Human Genetics, 2011
Parathyroid hormone treatment improves pain and fracture healing in adult hypophosphatasia.
Schalin-Jäntti C et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Lack of sustained response to teriparatide in a patient with adult hypophosphatasia.
Gagnon C et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
The mechanism of mineralization and the role of alkaline phosphatase in health and disease.
Orimo H
Journal of Nippon Medical School = Nippon Ika Daigaku Zasshi, 2010
Clinical characteristics of perinatal lethal hypophosphatasia: a report of 6 cases.
Nakamura-Utsunomiya A et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2010
Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia.
Whyte MP et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2009
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
Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling.
Simon-Bouy B et al.
Prenatal Diagnosis, 2008