Associated Papers
Molecular study of patients with odontohypophosphatasia resulting from missense mutation in ALPL.
Yue H et al.
Oral Diseases, 2024
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
Prevalence of Monogenic Bone Disorders in a Dutch Cohort of Atypical Femur Fracture Patients.
Zhou W et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2023
Identifying adult hypophosphatasia in the rheumatology unit.
Feurstein J et al.
Orphanet Journal of Rare Diseases, 2022
Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.
Glotov OS et al.
International Journal of Molecular Sciences, 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
Genotype-Phenotype Associations in 72 Adults with Suspected ALPL-Associated Hypophosphatasia.
Jandl NM et al.
Calcified Tissue International, 2021
Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation.
Mornet E et al.
European Journal of Human Genetics : Ejhg, 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
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
Hypophosphatasia in Japan: ALPL Mutation Analysis in 98 Unrelated Patients.
Michigami T et al.
Calcified Tissue International, 2020
Genetic analysis of adults heterozygous for ALPL mutations.
Taillandier A et al.
Journal of Bone and Mineral Metabolism, 2018
A homozygous intronic branch-point deletion in the ALPL gene causes infantile hypophosphatasia.
Mentrup B et al.
Bone, 2017
Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach.
Olech EM et al.
Polish Journal of Pathology : Official Journal of the Polish Society of Pathologists, 2016
Novel ALPL genetic alteration associated with an odontohypophosphatasia phenotype.
Martins L et al.
Bone, 2013
[Infantile hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase gene].
Zhao Z et al.
Zhonghua Nei Ke Za Zhi, 2013
Disulfide bonds are critical for tissue-nonspecific alkaline phosphatase function revealed by analysis of mutant proteins bearing a C(201)-Y or C(489)-S substitution associated with severe hypophosphatasia.
Satou Y et al.
Biochimica Et Biophysica Acta, 2012
Functional evaluation of mutations in the tissue-nonspecific alkaline phosphatase gene.
Zhu T et al.
The Chinese Journal of Dental Research, 2012
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
[Molecular basis of hypophosphatasia].
Oda K
Seikagaku. the Journal of Japanese Biochemical Society, 2008
Severe hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene.
Stoll C et al.
Genetic Counseling (geneva, Switzerland), 2002
Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia.
Taillandier A et al.
Human Mutation, 2000
Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene.
Mornet E
Human Mutation, 2000