Associated Papers
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
Catalyzing precision: unraveling the diagnostic conundrum of tunisian familial hypophosphatasia case through integrative clinical and molecular approaches.
Amri Y et al.
Molecular Genetics and Genomics : Mgg, 2024
The structural pathology for hypophosphatasia caused by malfunctional tissue non-specific alkaline phosphatase.
Yu Y et al.
Nature Communications, 2023
Dissecting mutational allosteric effects in alkaline phosphatases associated with different Hypophosphatasia phenotypes: An integrative computational investigation.
Xiao F et al.
Plos Computational Biology, 2022
Lethal Encephalopathy in an Infant with Hypophosphatasia despite Enzyme Replacement Therapy.
Raimann A et al.
Hormone Research in Paediatrics, 2021
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
Hypophosphatasia in Japan: ALPL Mutation Analysis in 98 Unrelated Patients.
Michigami T et al.
Calcified Tissue International, 2020
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
Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures.
de Roo MGA et al.
Molecular Genetics and Metabolism, 2014
[Infantile hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase gene].
Zhao Z et al.
Zhonghua Nei Ke Za Zhi, 2013
Compound heterozygosity of two functional null mutations in the ALPL gene associated with deleterious neurological outcome in an infant with hypophosphatasia.
Hofmann C et al.
Bone, 2013
Functional evaluation of mutations in the tissue-nonspecific alkaline phosphatase gene.
Zhu T et al.
The Chinese Journal of Dental Research, 2012
Whole-body MRI in the childhood form of hypophosphatasia.
Beck C et al.
Rheumatology International, 2011
Neurosurgical aspects of childhood hypophosphatasia.
Collmann H et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2009
[Molecular basis of hypophosphatasia].
Oda K
Seikagaku. the Journal of Japanese Biochemical Society, 2008
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
Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia.
Orimo H 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