المؤلفون: Luis Martínez-Heredia, Manuel Muñoz-Torres, Raquel Sanabria-de la Torre, Ángela Jiménez-Ortas, Francisco Andújar-Vera, Trinidad González-Cejudo, Victoria Contreras-Bolívar, Sheila González-Salvatierra, José María Gómez-Vida, Cristina García-Fontana, Beatriz García-Fontana

المصدر: Frontiers in Endocrinology, Vol 14 (2024)

مصطلحات موضوعية: hypophosphatasia, tissue non-specific alkaline phosphatase, autoimmune diseases, gastrointestinal disorders, metabolic disease, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2023.1320516/fullTest; https://doaj.org/toc/1664-2392Test

الوصول الحر: https://doaj.org/article/8e59b00ac1ac4e5b95d3666530d33717Test

المؤلفون: Hwa Kyung Nam, Emmanouil Emmanouil, Nan E. Hatch

المصدر: Frontiers in Dental Medicine, Vol 3 (2022)

مصطلحات موضوعية: craniofacial abnormalities, hypophosphatasia, pyrophosphate (PPi), craniosynostosis, fibroblast growth factor 23 (FGF23), tissue non-specific alkaline phosphatase (TNAP), Dentistry, RK1-715

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fdmed.2022.846962/fullTest; https://doaj.org/toc/2673-4915Test

الوصول الحر: https://doaj.org/article/13c32af1e7d047dea6b7ad358ec3eb5dTest

المؤلفون: Luis Martínez-Heredia, Manuel Muñoz-Torres, Raquel Sanabria-de la Torre, Ángela Jiménez-Ortas, Francisco Andújar-Vera, Trinidad González-Cejudo, Victoria Contreras-Bolívar, Sheila González-Salvatierra, José María Gómez-Vida, Cristina García-Fontana, Beatriz García-Fontana

مصطلحات موضوعية: Endocrinology, Reproduction, Cell Metabolism, hypophosphatasia, tissue non-specific alkaline phosphatase, autoimmune diseases, gastrointestinal disorders, metabolic disease

العلاقة: https://figshare.com/articles/dataset/DataSheet_1_Systemic_effects_of_hypophosphatasia_characterization_of_two_novel_variants_in_the_ALPL_gene_docx/24933729Test

الإتاحة: https://doi.org/10.3389/fendo.2023.1320516.s001Test
https://figshare.com/articles/dataset/DataSheet_1_Systemic_effects_of_hypophosphatasia_characterization_of_two_novel_variants_in_the_ALPL_gene_docx/24933729Test

المؤلفون: Fengdan Yu, Junyi Wang, Xiaojing Xu

المصدر: BMC Pediatrics, Vol 19, Iss 1, Pp 1-5 (2019)

مصطلحات موضوعية: Hypophosphatasia, Tissue non-specific alkaline phosphatase, Gene mutation, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12887-019-1478-7Test; https://doaj.org/toc/1471-2431Test

الوصول الحر: https://doaj.org/article/523d1de4d51c4dc4a7c9a2283573f33cTest

المؤلفون: Hwa Kyung Nam, Emmanouil Emmanouil, Nan E. Hatch

مصطلحات موضوعية: Dental Materials and Equipment, Dental Therapeutics, Pharmacology and Toxicology, Endodontics, Periodontics, Dentistry not elsewhere classified, craniofacial abnormalities, hypophosphatasia, pyrophosphate (PPi), craniosynostosis, fibroblast growth factor 23 (FGF23), tissue non-specific alkaline phosphatase (TNAP), ENPP1

العلاقة: https://figshare.com/articles/figure/Image_2_Deletion_of_the_Pyrophosphate_Generating_Enzyme_ENPP1_Rescues_Craniofacial_Abnormalities_in_the_TNAP_Mouse_Model_of_Hypophosphatasia_and_Reveals_FGF23_as_a_Marker_of_Phenotype_Severity_TIF/19670676Test

الإتاحة: https://doi.org/10.3389/fdmed.2022.846962.s002Test
https://figshare.com/articles/figure/Image_2_Deletion_of_the_Pyrophosphate_Generating_Enzyme_ENPP1_Rescues_Craniofacial_Abnormalities_in_the_TNAP_Mouse_Model_of_Hypophosphatasia_and_Reveals_FGF23_as_a_Marker_of_Phenotype_Severity_TIF/19670676Test

المؤلفون: Marini, Francesca, Masi, Laura, Giusti, Francesca, Cianferotti, Luisella, Cioppi, Federica, Marcucci, Gemma, Ciuffi, Simone, Biver, Emmanuel, Toro, Giuseppe, Iolascon, Giovanni, Iantomasi, Teresa, Brandi, Maria Luisa

المساهمون: Marini, Francesca, Masi, Laura, Giusti, Francesca, Cianferotti, Luisella, Cioppi, Federica, Marcucci, Gemma, Ciuffi, Simone, Biver, Emmanuel, Toro, Giuseppe, Iolascon, Giovanni, Iantomasi, Teresa, Brandi, Maria Luisa

مصطلحات موضوعية: ALPL gene, Hypophosphatasia, atypical femur fracture (AFFs), common variant, rare variant, tissue non-specific alkaline phosphatase (TNSALP)

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34935951; info:eu-repo/semantics/altIdentifier/wos/WOS:000756741500001; journal:THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM; http://hdl.handle.net/11591/459124Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85128493642

الإتاحة: https://doi.org/10.1210/clinem/dgab914Test
http://hdl.handle.net/11591/459124Test

المؤلفون: Francesca Marini, Laura Masi, Francesca Giusti, Luisella Cianferotti, Federica Cioppi, Gemma Marcucci, Simone Ciuffi, Emmanuel Biver, Giuseppe Toro, Giovanni Iolascon, Teresa Iantomasi, Maria Luisa Brandi

المساهمون: Marini, Francesca, Masi, Laura, Giusti, Francesca, Cianferotti, Luisella, Cioppi, Federica, Marcucci, Gemma, Ciuffi, Simone, Biver, Emmanuel, Toro, Giuseppe, Iolascon, Giovanni, Iantomasi, Teresa, Brandi, Maria Luisa

مصطلحات موضوعية: Adult, Genotype, Endocrinology, Diabetes and Metabolism, Biochemistry (medical), Clinical Biochemistry, ALPL gene, Hypophosphatasia, Alkaline Phosphatase, Biochemistry, atypical femur fracture (AFFs), Endocrinology, common variant, Mutation, tissue non-specific alkaline phosphatase (TNSALP), Humans, Femur, rare variant, Retrospective Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53e1099e24b5d88d2316a8da1d08606bTest
http://hdl.handle.net/11591/459124Test

المؤلفون: Liu, H., Li, J., Lei, H., Zhu, T., Gan, Y., Ge, L.

المساهمون: Ge, L (reprint author), Zhongguancun S Ave 22, Beijing 100081, Peoples R China., Peking Univ, Dept Pediat Dent, Sch Stomatol, Beijing 100871, Peoples R China., Peking Univ, Dept Pediat Dent, Hosp Stomatol, Beijing 100871, Peoples R China., Peking Univ, Cent Lab, Hosp Stomatol, Beijing 100871, Peoples R China., Peking Univ, Cent Lab, Sch Stomatol, Beijing 100871, Peoples R China., Zhongguancun S Ave 22, Beijing 100081, Peoples R China.

المصدر: PubMed ; SCI

مصطلحات موضوعية: hypophosphatasia, tissue-non-specific alkaline phosphatase, gene mutation, dental pulp cells, NONSPECIFIC ALKALINE-PHOSPHATASE, STRUCTURAL EVIDENCE, MINERALIZATION, MUTATIONS, CULTURES, TEETH

العلاقة: JOURNAL OF DENTAL RESEARCH.2010,89,(12),1373-1377.; 668493; http://hdl.handle.net/20.500.11897/344685Test; WOS:000284531100006

الإتاحة: https://doi.org/20.500.11897/344685Test
https://doi.org/10.1177/0022034510379017Test
https://hdl.handle.net/20.500.11897/344685Test

المؤلفون: Francisco Humberto Nociti, Brian L. Foster, Mariana Martins Ribeiro, Enilson Antonio Sallum, Miki Taketomi Saito, Ana Paula Oliveira Giorgetti, Thaisângela L. Rodrigues, Luciane Martins, Martha J. Somerman, Márcio Zaffalon Casati

المصدر: Bone. (2):390-397

مصطلحات موضوعية: Proband, Male, ALPL, Histology, Genotype, Physiology, Endocrinology, Diabetes and Metabolism, Mutation, Missense, Hypophosphatasia, Biology, Compound heterozygosity, Article, Protein Structure, Secondary, 03 medical and health sciences, 0302 clinical medicine, medicine, Missense mutation, Humans, Collagen-binding site, Tooth Demineralization, 030304 developmental biology, Odontohypophosphatasia, Genetics, 0303 health sciences, Compound heterozygous mutations, medicine.disease, Alkaline Phosphatase, Molecular biology, Phenotype, Pedigree, Tissue non-specific alkaline phosphatase, Mutation, Alkaline phosphatase, Female, Carrier Proteins, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d91bd74def2bbf7ccfa260e764ab58ecTest