المؤلفون: Qiao Wang, Jia-jia Chen, Li-ya Wei, Yuan Ding, Min Liu, Wen-jing Li, Chang Su, Chun-xiu Gong

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: Hypercalcemia, Nephrolithiasis, Idiopathic infantile hypercalcemia, CYP24A1, SLC34A1, Vitamin D, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/06b454efb27349ce93b71675c67b5240Test

المؤلفون: Jiechuan Qiu, Zicheng Wang, Yingkun Xu, Leizuo Zhao, Peizhi Zhang, Han Gao, Qingliang Wang, Qinghua Xia

المصدر: BMC Urology, Vol 23, Iss 1, Pp 1-18 (2023)

مصطلحات موضوعية: SLC34A1, Clear cell renal cell carcinoma, Diagnosis, Prognostic marker, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1471-2490Test

الوصول الحر: https://doaj.org/article/b5bf0bc88b6e49f099bfc8141511f980Test

المؤلفون: Francesca Giusti, Francesca Marini, Hatim Al-alwani, Elena Marasco, Paolo Garagnani, Aliya A. Khan, Maria Luisa Brandi

المصدر: International Journal of Molecular Sciences, Vol 24, Iss 24, p 17289 (2023)

مصطلحات موضوعية: SLC34A1 gene, autosomal dominant hypophosphatemic nephrolithiasis/osteoporosis type 1, genetic testing, gene mutation, recurrent nephrolithiasis, bone mass loss, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/24/24/17289Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/70e90ac10aed4ecd812bd86753b61700Test

المؤلفون: Aurélia Bertholet-Thomas, Aurélie Portefaix, Sacha Flammier, Carole Dhelens, Fabien Subtil, Laurence Dubourg, Valérie Laudy, Myrtille Le Bouar, Inesse Boussaha, Marietou Ndiaye, Arnaud Molin, Sandrine Lemoine, Justine Bacchetta

المصدر: Trials, Vol 23, Iss 1, Pp 1-10 (2022)

مصطلحات موضوعية: SLC34A1, SLC34A3, CYP24A1, Hypercalciuria, Fluconazole, 1,25(OH)2D, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1745-6215Test

الوصول الحر: https://doaj.org/article/7560d0c2345148e3b07dc2b952e14639Test

المؤلفون: Teofana Otilia Bizerea-Moga, Flavia Chisavu, Cristina Ilies, Orsolya Olah, Otilia Marginean, Mihai Gafencu, Gabriela Doros, Ramona Stroescu

المصدر: Children, Vol 10, Iss 10, p 1701 (2023)

مصطلحات موضوعية: idiopathic infantile hypercalcemia, nephrocalcinosis, CYP24A1, SLC34A1, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2227-9067/10/10/1701Test; https://doaj.org/toc/2227-9067Test

الوصول الحر: https://doaj.org/article/761fe7bc89ad43b383a94b156e6867e3Test

المؤلفون: Lujia Wang, Zijian Zhou, Yuanyuan Yang, Peng Gao, Xiaoling Lin, Zhong Wu

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: nephrolithiasis, WDR72, DGKH, CLDN14, SLC34A1, HIBADH, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.897051/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/05c441fddf0b4ab1b22e5e652b76c9c8Test

المؤلفون: Verjans, Marcelien, Hindryckx, An, Rosier, Karen, Devriendt, Koen, Mekahli, Djalila, Bockenhauer, Detlef

المصدر: Pediatric Nephrology (2024) (In press).

مصطلحات موضوعية: Infantile hypercalcemia type 2, SLC34A1, NaPi2a, nephrocalcinosis, antenatal presentation, phosphate supplementation

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10193063Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10193063Test/

المؤلفون: Zhang, Junying, Che, Tiantian, Wang, Liting, Sun, Wei, Zhao, Jing, Chen, Jiajia, Liu, Yang, Pu, Qi, Zhang, Yu, Li, Jiani, Li, Zhangfu, Zhu, Zhaojing, Fu, Qihuan, Wang, Xiaoyang, Yuan, Jiangbei

المصدر: J Proteomics ; ISSN:1876-7737 ; Volume:302

مصطلحات موضوعية: Acute kidney injury, Cisplatin, LPS, Quantitative proteomics, RNA sequencing, Slc34a1, Slc34a3

العلاقة: https://doi.org/10.1016/j.jprot.2024.105203Test; https://pubmed.ncbi.nlm.nih.gov/38782357Test

الإتاحة: https://doi.org/10.1016/j.jprot.2024.105203Test
https://pubmed.ncbi.nlm.nih.gov/38782357Test

المؤلفون: Bertholet-Thomas, A., Portefaix, A., Flammier, S., Dhelens, C., Subtil, F., Dubourg, L., Laudy, V., Le Bouar, M., Boussaha, I., Ndiaye, M., Molin, A., Lemoine, S., Bacchetta, J.

المساهمون: Physiopathologie, diagnostic et traitements des maladies osseuses / Pathophysiology, Diagnosis & Treatments of Bone Diseases (LYOS), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM), Filières Maladies Rares ORKID et ERK-Net, Hôpital Femme Mère Enfant CHU - HCL (HFME), Hospices Civils de Lyon (HCL), Centre de Référence des Maladies Rares du Métabolisme du Phosphore et du Calcium and Filière de Santé Maladies Rares (OSCAR), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre d'Investigation Clinique Bron (CIC1407), Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Groupement Hospitalier Est Bron, Hôpital Louis Pradel CHU - HCL, Hôpital Edouard Herriot CHU - HCL, Université de Lyon, Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Service de Biostatistiques Lyon, CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université de Lyon-Université de Lyon-Hospices Civils de Lyon (HCL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)

المصدر: ISSN: 1745-6215 ; Trials ; https://inserm.hal.science/inserm-03830404Test ; Trials, 2022, 23 (1), pp.499. ⟨10.1186/s13063-022-06302-z⟩.

مصطلحات موضوعية: 25(OH)2D, CYP24A1, Controlled, Fluconazole, Hypercalciuria, Nephrolithiasis, Phosphate, Randomized, SLC34A1, SLC34A3, [SDV]Life Sciences [q-bio]

الوقت: 1

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35710560; inserm-03830404; https://inserm.hal.science/inserm-03830404Test; https://inserm.hal.science/inserm-03830404/documentTest; https://inserm.hal.science/inserm-03830404/file/s13063-022-06302-z.pdfTest; PUBMED: 35710560; PUBMEDCENTRAL: PMC9204961

الإتاحة: https://doi.org/10.1186/s13063-022-06302-zTest
https://inserm.hal.science/inserm-03830404Test
https://inserm.hal.science/inserm-03830404/documentTest
https://inserm.hal.science/inserm-03830404/file/s13063-022-06302-z.pdfTest

المؤلفون: Arnaud Molin, Sandrine Lemoine, Martin Kaufmann, Pierre Breton, Marie Nowoczyn, Céline Ballandonne, Nadia Coudray, Hervé Mittre, Nicolas Richard, Amélie Ryckwaert, Alinoe Lavillaureix, Glenville Jones, Justine Bacchetta, Marie-Laure Kottler

المصدر: Frontiers in Endocrinology, Vol 12 (2021)

مصطلحات موضوعية: hypersensitivity to vitamin D, calcitriol induced hypercalcemia, phosphate wasting diseases, vitamin D, CYP24A1- hydroxylase, SLC34A1 gene, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2021.736240/fullTest; https://doaj.org/toc/1664-2392Test

الوصول الحر: https://doaj.org/article/1aa029400b4e4ef987c1856815b470ccTest