Associated Papers
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
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
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
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
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
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
Exome sequencing and analysis of 454,787 UK Biobank participants.
Backman JD et al.
Nature, 2021
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Bilateral atypical femoral fractures during denosumab therapy in a patient with adult-onset hypophosphatasia.
Warren AM et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2021
Impact of pediatric hypophosphatasia on behavioral health and quality of life.
Pierpont EI 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
LRP1B mutation is associated with tumor HPV status and promotes poor disease outcomes with a higher mutation count in HPV-related cervical carcinoma and head & neck squamous cell carcinoma.
Cao CH et al.
International Journal of Biological Sciences, 2021
Phenotypic Profiling in Subjects Heterozygous for 1 of 2 Rare Variants in the Hypophosphatasia Gene (ALPL).
Tilden DR et al.
Journal of the Endocrine Society, 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
Hypophosphatasia in Japan: ALPL Mutation Analysis in 98 Unrelated Patients.
Michigami T et al.
Calcified Tissue International, 2020
Neonatal lethal hypophosphatasia: A case report and review of literature.
Castells L et al.
Medicine, 2018
Rare Variants in the Gene ALPL That Cause Hypophosphatasia Are Strongly Associated With Ovarian and Uterine Disorders.
Dahir KM et al.
The Journal of Clinical Endocrinology and Metabolism, 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
A homozygous intronic branch-point deletion in the ALPL gene causes infantile hypophosphatasia.
Mentrup B et al.
Bone, 2017
Pathophysiology of hypophosphatasia and the potential role of asfotase alfa.
Orimo H
Therapeutics and Clinical Risk Management, 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
[Infantile hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase gene].
Zhao Z et al.
Zhonghua Nei Ke Za Zhi, 2013
"Atypical femoral fractures" during bisphosphonate exposure in adult hypophosphatasia.
Sutton RA et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2012
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
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
[Molecular basis of hypophosphatasia].
Oda K
Seikagaku. the Journal of Japanese Biochemical Society, 2008
Autosomal recessive adult-onset hypophosphatasia.
Harraway JR et al.
Pathology, 2005
Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations.
Brun-Heath I et al.
Molecular Genetics and Metabolism, 2005
Severe hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.
Stoll C et al.
Genetic Counseling (geneva, Switzerland), 2002
Hypophosphatasia: molecular diagnosis of Rathbun's original case.
Mumm S et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2001
Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene.
Mornet E
Human Mutation, 2000