المؤلفون: Rakhtan K. Qasba, Anna Carolina Flumignan Bucharles, Maria Victoria Ferreira Piccoli, Pranjal Sharma, Akshat Banga, Balakrishnan Kamaraj, Faisal A. Nawaz, Harshadayani Jagadish Kumar, Mahika Afrin Happy, Ruman K. Qasba, Gowthami Sai Kogilathota Jagirdhar, Mohammad Yasir Essar, Piyush Garg, Shiva Teja Reddy, Kaanthi Rama, Salim Surani, Rahul Kashyap

المصدر: Medicina, Vol 59, Iss 1638, p 1638 (2023)

مصطلحات موضوعية: Bartter syndrome, salt-losing tubulopathies, autosomal-recessive tubulopathies, Medicine (General), R5-920

Relation: https://www.mdpi.com/1648-9144/59/9/1638; https://doaj.org/toc/1010-660X; https://doaj.org/toc/1648-9144; https://doaj.org/article/23cc7bf5d75a4d01a482a1d984e65038

الاتاحة: https://doi.org/10.3390/medicina59091638
https://doaj.org/article/23cc7bf5d75a4d01a482a1d984e65038

المؤلفون: Verploegen, Maartje F A, Vargas-Poussou, Rosa, Walsh, Stephen B, Alpay, Harika, Amouzegar, Atefeh, Ariceta, Gema, Atmis, Bahriye, Bacchetta, Justine, Bárány, Peter, Baron, Stéphanie, Bayrakci, Umut Selda, Belge, Hendrica, Besouw, Martine, Blanchard, Anne, Bökenkamp, Arend, Boyer, Olivia, Burgmaier, Kathrin, Calò, Lorenzo A, Decramer, Stéphane, Devuyst, Olivier, van Dyck, Maria, Ferraro, Pietro Manuel, Fila, Marc, Francisco, Telma, Ghiggeri, Gian Marco, Gondra, Leire, Guarino, Stefano, Hooman, Nakysa, Hoorn, Ewout J, Houillier, Pascal, Kamperis, Konstantinos, Kari, Jameela A, Konrad, Martin, Levtchenko, Elena, Lucchetti, Laura, Lugani, Francesca, Marzuillo, Pierluigi, Mohidin, Barian, Neuhaus, Thomas J, Osman, Abdaldafae, Papizh, Svetlana, Perelló, Manel, Rookmaaker, Maarten B, Conti, Valerie Said, Santos, Fernando, Sawaf, Ghalia, Serdaroglu, Erkin, Szczepanska, Maria, Taroni, Francesca, Topaloglu, Rezan, Trepiccione, Francesco, Vidal, Enrico, Wan, Elizabeth R, Weber, Lutz, Yildirim, Zeynep Yuruk, Yüksel, Selçuk, Zlatanova, Galia, Bockenhauer, Detlef, Emma, Francesco, Nijenhuis, Tom

المساهمون: UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (SLuc) Service de néphrologie

المصدر: Nephrology, dialysis, transplantation, Vol. 37, no. 12, p. 2474-2486 (2022)

مصطلحات موضوعية: Bartter syndomr, Gitelman syndrome, parathyroid hormone, phosphate, salt losing tubulopathies

Relation: boreal:276663; http://hdl.handle.net/2078.1/276663; info:pmid/; urn:ISSN:0931-0509; urn:EISSN:1460-2385

الاتاحة: http://hdl.handle.net/2078.1/276663
https://doi.org/10.1093/ndt/gfac029

المؤلفون: Verploegen, Maartje FA, Vargas-Poussou, Rosa, Walsh, Stephen B, Alpay, Harika, Amouzegar, Atefeh, Ariceta, Gema, Atmis, Bahriye, Bacchetta, Justine, Bárány, Peter, Baron, Stéphanie, Bayrakci, Umut Selda, Belge, Hendrica, Besouw, Martine, Blanchard, Anne, Bökenkamp, Arend, Boyer, Olivia, Burgmaier, Kathrin, Calò, Lorenzo A, Decramer, Stéphane, Devuyst, Olivier, van Dyck, Maria, Ferraro, Pietro Manuel, Fila, Marc, Francisco, Telma, Ghiggeri, Gian Marco, Gondra, Leire, Guarino, Stefano, Hooman, Nakysa, Hoorn, Ewout J, Houillier, Pascal, Kamperis, Konstantinos, Kari, Jameela A, Konrad, Martin, Levtchenko, Elena, Lucchetti, Laura, Lugani, Francesca, Marzuillo, Pierluigi, Mohidin, Barian, Neuhaus, Thomas J, Osman, Abdaldafae, Papizh, Svetlana, Perelló, Manel, Rookmaaker, Maarten B, Conti, Valerie Said, Santos, Fernando, Sawaf, Ghalia, Serdaroglu, Erkin, Szczepanska, Maria, Taroni, Francesca, Topaloglu, Rezan, Trepiccione, Francesco, Vidal, Enrico, Wan, Elizabeth R, Weber, Lutz, Yildirim, Zeynep Yuruk, Yüksel, Selçuk, Zlatanova, Galia, Bockenhauer, Detlef, Emma, Francesco, Nijenhuis, Tom

المصدر: Nephrology Dialysis Transplantation , 37 (12) pp. 2474-2786. (2022)

مصطلحات موضوعية: Bartter syndrome, Gitelman syndrome, parathyroid hormone, phosphate, salt losing tubulopathies

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10145684/7/Bockenhauer_gfac029.pdf; https://discovery.ucl.ac.uk/id/eprint/10145684/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10145684/7/Bockenhauer_gfac029.pdf
https://discovery.ucl.ac.uk/id/eprint/10145684/

المؤلفون: Viviana Palazzo, Valentina Raglianti, Samuela Landini, Luigi Cirillo, Carmela Errichiello, Elisa Buti, Rosangela Artuso, Lucia Tiberi, Debora Vergani, Elia Dirupo, Paola Romagnani, Benedetta Mazzinghi, Francesca Becherucci

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 10; Pages: 5641

مصطلحات موضوعية: whole-exome sequencing, Bartter syndrome, Gitelman syndrome, salt-losing tubulopathies, genetics, chronic kidney disease

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms23105641

الاتاحة: https://doi.org/10.3390/ijms23105641

المؤلفون: Blanco, Francisco J., García Castaño, Alejandro, Pérez de Nanclares, Gustavo, Madariaga Domínguez, Leire, Aguirre, Mireia, Madrid, Álvaro, Chocrón, Sara, Nadal, Inmaculada, Navarro, Mercedes, Lucas, Elena, Fijo, Julia, Espino, Mar, Espitaletta, Zilac, García Nieto, Víctor, Barajas de Frutos, David, Loza, Reyner, Pintos, Guillem, Castaño González, Luis Antonio, RenalTube Group, Ariceta, Gema

مصطلحات موضوعية: chloride channel gene, salt-losing tubulopathies, molecular analysis, clcnkb, mutations, nephrocalcinosis, gitelman

وصف الملف: application/pdf

Relation: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0173581; PLOS ONE 12(3) : (2017) // Article ID e0173581; http://hdl.handle.net/10810/32587

الاتاحة: http://hdl.handle.net/10810/32587
https://doi.org/10.1371/journal.pone.0173581

المؤلفون: Seys, E, Andrini, O, Keck, M, Mansour-Hendili, L, Courand, P-Y, Simian, C, Deschenes, G, Kwon, T, Bertholet-Thomas, A, Bobrie, G, Borde, JS, Bourdat-Michel, G, Decramer, S, Cailliez, M, Krug, P, Cozette, P, Delbet, JD, Dubourg, L, Chaveau, D, Fila, M, Jourde-Chiche, N, Knebelmann, B, Lavocat, M-P, Lemoine, S, Djeddi, D, Llanas, B, Louillet, F, Merieau, E, Mileva, M, Mota-Vieira, L, Mousson, C, Nobili, F, Novo, R, Roussey-Kesler, G, Vrillon, I, Walsh, SB, Teulon, J, Blanchard, A, Vargas-Poussou, R

المصدر: Journal of the American Society of Nephrology , 28 (8) pp. 2540-2552. (2017)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Urology & Nephrology, Chloride Channel Gene, Salt-Losing Tubulopathies, Calcium-Sensing Receptor, Growth-Hormone, Hypokalemic Alkalosis, Gitelman-Syndrome, Kidney-Disease, Distal Nephron, Mutations, CLCNKB

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1571867/1/Bartter%203-MS-20170205%20clean.pdf; https://discovery.ucl.ac.uk/id/eprint/1571867/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1571867/1/Bartter%203-MS-20170205%20clean.pdf
https://discovery.ucl.ac.uk/id/eprint/1571867/

المؤلفون: Ryusuke Umene, Shinichi Uchida, Hideyuki Arai, Yuka Ishimaru, Yoko Obata, Tomoya Nishino, Eisei Sohara, Kazuki Matsumura, Tadashi Uramatsu, Takayasu Mori, Kanenori Maeda, Mineaki Kitamura

المصدر: CEN Case Rep

مصطلحات موضوعية: Adult, Heterozygote, genetic structures, 030232 urology & nephrology, Hypokalemia, Case Report, Hyperuricemia, 030204 cardiovascular system & hematology, Compound heterozygosity, Bartter syndrome, CLCNKB, Gout Suppressants, Potassium Chloride, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Febuxostat, Chloride Channels, medicine, Humans, Renal Insufficiency, Gene, Solute Carrier Family 12, Member 1, Genetics, CLCNKA, biology, business.industry, General Medicine, Gitelman syndrome, medicine.disease, Phenotype, Salt-losing tubulopathies, Treatment Outcome, Mutation, biology.protein, Drug Therapy, Combination, Female, medicine.symptom, business, SLC12A1, Gitelman Syndrome

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8e19dd2c7fbae4b8a1d86a77a12a5d7
https://nagasaki-u.repo.nii.ac.jp/records/96

المؤلفون: Umene, Ryusuke, Kitamura, Mineaki, Arai, Hideyuki, Matsumura, Kazuki, Ishimaru, Yuka, Maeda, Kanenori, Uramatsu, Tadashi, Obata, Yoko, Mori, Takayasu, Sohara, Eisei, Uchida, Shinichi, Nishino, Tomoya

مصطلحات موضوعية: Bartter syndrome, CLCNKB, Salt-losing tubulopathies, SLC12A1

وصف الملف: application/pdf

Relation: CEN Case Reports; 375; 379; https://nagasaki-u.repo.nii.ac.jp/record/96/files/CENCR9_375.pdf

الاتاحة: https://nagasaki-u.repo.nii.ac.jp/record/96/files/CENCR9_375.pdf

المؤلفون: Medicina, Medikuntza, Blanco, Francisco J., García Castaño, Alejandro, Pérez de Nanclares, Gustavo, Madariaga Domínguez, Leire, Aguirre, Mireia, Madrid, Álvaro, Chocrón, Sara, Nadal, Inmaculada, Navarro, Mercedes, Lucas, Elena, Fijo, Julia, Espino, Mar, Espitaletta, Zilac, García Nieto, Víctor, Barajas de Frutos, David, Loza, Reyner, Pintos, Guillem, Castaño González, Luis Antonio, RenalTube Group, Ariceta, Gema

مصطلحات الفهرس: chloride channel gene, salt-losing tubulopathies, molecular analysis, clcnkb, mutations, nephrocalcinosis, gitelman, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10810/32587
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0173581
1932-6203
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0173581