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1دورية أكاديمية
المصدر: Bone Reports, Vol 21, Iss , Pp 101753- (2024)
مصطلحات موضوعية: Autosomal recessive hypophosphatemic rickets, Burosumab, DMP1, PHEX, Phosphate, X-linked hypophosphatemia, Diseases of the musculoskeletal system, RC925-935
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2352187224000202Test; https://doaj.org/toc/2352-1872Test
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2دورية أكاديمية
المؤلفون: Fengjiao Pan, Ruixiao Zhang, Xuyan Liu, Xiaomeng Shi, Qing Xin, Dan Qiao, Changying Li, Yan Zhang, Mengke Chen, Wencong Guo, Shufang Luan, Leping Shao
المصدر: Frontiers in Genetics, Vol 15 (2024)
مصطلحات موضوعية: PHEX, X-linked hypophosphatemia, exonic variant, minigene assay, pre-mRNA, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2024.1353674/fullTest; https://doaj.org/toc/1664-8021Test
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3دورية أكاديمية
المؤلفون: Maria Fourikou, Aristea Karipiadou, Athina Ververi, Parthena Savvidou, Nikolaos Laliotis, Vassilios Tsitouras, Stella Stabouli, Emmanuel Roilides, Konstantinos Kollios
المصدر: Bone Reports, Vol 20, Iss , Pp 101731- (2024)
مصطلحات موضوعية: X-linked hypophosphatemia, Rickets, Phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX), Chiari syndrome, Craniosynostosis, Splice-site mutation, Diseases of the musculoskeletal system, RC925-935
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2352187223000773Test; https://doaj.org/toc/2352-1872Test
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4دورية أكاديمية
المؤلفون: Maria Helena Vaisbich, Antônio César Paulillo deCillo, Bárbara Campolina C. Silva, Catarina Brasil DÁlva, Érico Higino deCarvalho, Juliana M. C. M. deAlmeida, Larissa L. M. Marques, Marcia Ribeiro, Mauro Borghi M. daSilva, Paula Frassinetti V. deMedeiros, Pedro Henrique Mendes
المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 2, Pp n/a-n/a (2024)
مصطلحات موضوعية: adulthood, burosumab, FGF23, hyperparathyroidism, PHEX variants, X‐linked hypophosphatemia, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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5مؤتمر
مصطلحات موضوعية: X-linked hypophosphatemic rickets, PHEX gene, rickets.
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6دورية أكاديمية
المؤلفون: Gloria Fraga, M. Alba Herreros, Marc Pybus, Miriam Aza-Carmona, Melissa Pilco-Teran, Mónica Furlano, M. José García-Borau, Roser Torra, Elisabet Ars
المصدر: Genes, Vol 15, Iss 6, p 679 (2024)
مصطلحات موضوعية: X-linked hypophosphatemia, PHEX gene, non-canonical splice site variant, Genetics, QH426-470
وصف الملف: electronic resource
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7دورية أكاديمية
المؤلفون: Ariceta, Gema, Beck-Nielsen, Signe Sparre, Boot, Annemieke M., Brandi, Maria Luisa, Briot, Karine, Lucas Collantes, María del Carmen de, Emma, Francesco, Giannini, Sandro, Hafner, Dieter, Keen, Richard, Levtchenko, Elena, Outi, Mäkitie, Mughal, M. Zulf, Nilsson, Ola, Schnabe, Dirk, Tripto-Shkolnik, Liana, Liu, Jonathan, Williams, Angela, Wood, Sue, Carola Zillikens, M.
المساهمون: UAM. Departamento de Pediatría
مصطلحات موضوعية: X-linked hypophosphatemia (XLH), hypophosphatemic rickets, rare disease, international, natural history, osteomalacia, patient registry, PHEX mutation, Fibroblast growth factor 23 (FGF23), Medicina
وصف الملف: application/pdf
العلاقة: Orphanet Journal of Rare Diseases; https://doi.org/10.1186/s13023-023-02882-4Test; Orphanet Journal of Rare Diseases 18 (2023): 304; 1750-1172 (online); http://hdl.handle.net/10486/709700Test; 304-1; 304-17; 18
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8دورية أكاديمية
المؤلفون: Xiaoming Chen, Cijing Cai, Shaocong Lun, Qiuli Ye, Weiyuan Pan, Yushi Chen, Yuexuan Wu, Taoshan Feng, Faming Su, Choudi Ma, Jiaxin Luo, Meilian Liu, Guoda Ma
المصدر: Frontiers in Endocrinology, Vol 14 (2023)
مصطلحات موضوعية: X-linked hypophosphatemic rickets, genotype-phenotype, PHEX gene, gene mutation, FGF23, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2023.1251718/fullTest; https://doaj.org/toc/1664-2392Test
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9دورية أكاديمية
المؤلفون: Kento Ikegawa, Yukihiro Hasegawa
المصدر: Endocrines, Vol 4, Iss 1, Pp 128-137 (2023)
مصطلحات موضوعية: X-linked hypophosphatemia, PHEX, QOL, lower leg deformities, growth impairment, TmP/GFR, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
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10
المؤلفون: Ariceta, Gema, Beck-Nielsen, Signe Sparre, Boot, Annemieke M., Brandi, Maria Luisa, Briot, Karine, de Lucas Collantes, Carmen, Emma, Francesco, Giannini, Sandro, Haffner, Dieter, Keen, Richard, Levtchenko, Elena, Mӓkitie, Outi, Mughal, M. Zulf, Nilsson, Ola, 1970, Schnabel, Dirk, Tripto-Shkolnik, Liana, Liu, Jonathan, Williams, Angela, Wood, Sue, Zillikens, M. Carola
المصدر: Orphanet Journal of Rare Diseases. 18(1)
مصطلحات موضوعية: Fibroblast growth factor 23 (FGF23), Hypophosphatemic rickets, International, Natural history, Osteomalacia, PHEX mutation, Patient registry, Rare disease, X-linked hypophosphatemia (XLH)
وصف الملف: print
الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:oru:diva-108579Test
https://doi.org/10.1186/s13023-023-02882-4Test