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
Hypophosphatasia: Low Penetrance of Pathogenic and Likely-Pathogenic ALPL Variants Identified Through an Unselected Biorepository.
Dahir KM et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 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
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
Screening for Hypophosphatasia in Adult Patients at a Maximum Care Provider-Retrospective Analyses over Fifteen Years.
Hennings R et al.
Journal of Clinical Medicine, 2024
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
Idiopathic juvenile osteoporosis-a polygenic disorder?
Wade E et al.
Jbmr Plus, 2024
Hypophosphatasia: presentation and response to asfotase alfa.
Alsarraf F 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, 2024
Pyridoxine challenge reflects pediatric hypophosphatasia severity and thereby examines tissue-nonspecific alkaline phosphatase's role in vitamin B6 metabolism.
Whyte MP et al.
Bone, 2024
The structural pathology for hypophosphatasia caused by malfunctional tissue non-specific alkaline phosphatase.
Yu Y et al.
Nature Communications, 2023
Not just a carrier: Clinical presentation and management of patients with heterozygous disease-causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening.
Beck NM et al.
Molecular Genetics & Genomic Medicine, 2023
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
Perspective on Dentoalveolar Manifestations Resulting From PHOSPHO1 Loss-of-Function: A Form of Pseudohypophosphatasia?
Mohamed FF et al.
Frontiers in Dental Medicine, 2022
Biochemical, clinical and genetic characteristics in adults with persistent hypophosphatasaemia; Data from an endocrinological outpatient clinic in Denmark.
Hepp N et al.
Bone Reports, 2021
Exome sequencing and analysis of 454,787 UK Biobank participants.
Backman JD et al.
Nature, 2021
Clinical and molecular findings in children and young adults with persistent low alkaline phosphatase concentrations.
Araci MB et al.
Annals of Clinical Biochemistry, 2021
Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation.
Mornet E et al.
European Journal of Human Genetics : Ejhg, 2021
Pharmacodynamics of asfotase alfa in adults with pediatric-onset hypophosphatasia.
Seefried L et al.
Bone, 2021
Case Report: Variations in the ALPL Gene in Chinese Patients With Hypophosphatasia.
Zhang Q et al.
Frontiers in Genetics, 2021
Dental Manifestations Leading to the Diagnosis of Hypophosphatasia in Two Children.
Okawa R et al.
Journal of Dentistry for Children (chicago, Ill.), 2020
Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children.
Vogt M et al.
Orphanet Journal of Rare Diseases, 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
Two novel mutations in the ALPL gene of unrelated Chinese children with Hypophosphatasia: case reports and literature review.
Mao X et al.
Bmc Pediatrics, 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 analysis of adults heterozygous for ALPL mutations.
Taillandier A et al.
Journal of Bone and Mineral Metabolism, 2018
Less common underlying genetic diagnoses found in a cohort of 139 individuals surgically corrected for craniosynostosis.
Ittleman BR 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
Successful Asfotase Alfa Treatment in an Adult Dialysis Patient With Childhood-Onset Hypophosphatasia.
Remde H et al.
Journal of the Endocrine Society, 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
Efficacy of anti-sclerostin monoclonal antibody BPS804 in adult patients with hypophosphatasia.
Seefried L et al.
The Journal of Clinical Investigation, 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
Molecular defect of tissue-nonspecific alkaline phosphatase bearing a substitution at position 426 associated with hypophosphatasia.
Al-Shawafi HA et al.
Molecular and Cellular Biochemistry, 2017
[Mutation analysis for two hypophosphatasia families with targeted next-generation sequencing].
Bai Y et al.
Zhonghua Yi Xue Za Zhi, 2016
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
Molecular phenotype of tissue-nonspecific alkaline phosphatase with a proline (108) to leucine substitution associated with dominant odontohypophosphatasia.
Numa-Kinjoh N et al.
Molecular Genetics and Metabolism, 2015
Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients.
Whyte MP et al.
Bone, 2015
An asparagine at position 417 of tissue-nonspecific alkaline phosphatase is essential for its structure and function as revealed by analysis of the N417S mutation associated with severe hypophosphatasia.
Sultana S et al.
Molecular Genetics and Metabolism, 2013
Rare coding variants in ALPL are associated with low serum alkaline phosphatase and low bone mineral density.
Nielson CM et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2012
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
Orodental phenotype and genotype findings in all subtypes of hypophosphatasia.
Reibel A et al.
Orphanet Journal of Rare Diseases, 2009
[Molecular basis of hypophosphatasia].
Oda K
Seikagaku. the Journal of Japanese Biochemical Society, 2008