المؤلفون: Sionniere, J, Groothoff, JW, Michael, Mini, Shasha-Lavsky, H, Lieske, JC, Frishberg, Y, Simkova, E, Sellier-Leclerc, AL, Devresse, Arnaud, Magen, D

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

المصدر: Néphrologie & Thérapeutique, Vol. 18, no.5, p. 391-392 (2022)

العلاقة: boreal:271656; http://hdl.handle.net/2078.1/271656Test

الإتاحة: http://hdl.handle.net/2078.1/271656Test

المؤلفون: Michael, M., Groothoff, J. W., Shasha-Lavsky, H., Lieske, J. C., Frishberg, Y., Simkova, E., Sellier-Leclerc, A. L., Devresse, A., Guebre-Egziabher, F., Bakkaloglu, S. A., Mourani, C., Saqan, R., Singer, R., Willey, R., Habtemariam, B., Gansner, J. M., Bhan, I., Mcgregor, T., Magen, D.

المساهمون: Texas Children's Hospital Houston, USA, Baylor College of Medicine (BCM), Baylor University, Emma Children’s Hospital, Amsterdam UMC - Amsterdam University Medical Center, Galilee Medical Center Nahariya, Israel, Bar-Ilan University Israël, Mayo Clinic Rochester, Shaare Zedek Medical Center Jerusalem, Israel, Al Jalila Children's Specialty Hospital, Filières Maladies Rares ORKID et ERK-Net, 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, Cliniques Universitaires Saint-Luc Bruxelles, Cardiovasculaire, métabolisme, diabétologie et nutrition (CarMeN), Université Claude Bernard Lyon 1 (UCBL), 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), Gazi University, Hôpital Hôtel Dieu de France Beirut, Lebanon (2HDF), Jordan University of Science and Technology Irbid, Jordan (JUST), Canberra Health Services Garran, ACT, Australia (CHS), Alnylam Pharmaceuticals Cambridge, MA, USA, Rambam Health Care Campus Haifa, Israel

المصدر: ISSN: 0272-6386.

مصطلحات موضوعية: Lumasiran, RNA interference (RNAi), adverse events, anti-drug antibodies, cardiac dysfunction, efficacy, glycolate, hemodialysis, kidney disease, nephrocalcinosis, pediatric, pharmacodynamics, pharmacokinetics, phase 3 clinical trial, plasma oxalate (POx), primary hyperoxaluria type 1 (PH1), safety, systemic oxalosis, urinary oxalate (UOx), [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35843439; inserm-03831070; https://www.hal.inserm.fr/inserm-03831070Test; https://www.hal.inserm.fr/inserm-03831070/documentTest; https://www.hal.inserm.fr/inserm-03831070/file/1-s2.0-S0272638622007715-main.pdfTest; PUBMED: 35843439

الإتاحة: https://doi.org/10.1053/j.ajkd.2022.05.012Test
https://www.hal.inserm.fr/inserm-03831070Test
https://www.hal.inserm.fr/inserm-03831070/documentTest
https://www.hal.inserm.fr/inserm-03831070/file/1-s2.0-S0272638622007715-main.pdfTest

المؤلفون: Magen, D., Groothoff, J., Hulton, S.A., Harambat, J., Hogan, J., Sellier-Leclerc, A.L., Hayes, W., Coenen, M., Ngo, T., Gansner, J., Frishberg, Y.

المصدر: Kidney International Reports ; volume 7, issue 2, page S195 ; ISSN 2468-0249

مصطلحات موضوعية: Nephrology

الإتاحة: https://doi.org/10.1016/j.ekir.2022.01.465Test
https://api.elsevier.com/content/article/PII:S246802492200465X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S246802492200465X?httpAccept=text/plainTest

المؤلفون: Esposito, A., Falace, A., Wagner, M., Gal, M., Mei, D., Conti, V., Pisano, T., Aprile, D., Cerullo, M.S., De Fusco, A., Giovedì, S., Seibt, A., Magen, D., Polster, T., Eran, A., Stenton, S., Fiorillo, C., Ravid, S., Mayatepek, E., Hafner, H., Wortmann, S.B., Levanon, E.Y., Marini, C., Mandel, H., Benfenati, F., Distelmaier, F., Fassio, A., Guerrini, R.

المصدر: Brain 142, 3876-3891 (2019)

مصطلحات موضوعية: Autophagy, Developmental And Epileptic Encephalopathy, Neuropathy, Ohtahara Syndrome, Progressive Disorder

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31688942; info:eu-repo/semantics/altIdentifier/wos/WOS:000504324300026; info:eu-repo/semantics/altIdentifier/isbn/0006-8950; info:eu-repo/semantics/altId; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=57270Test; urn:isbn:0006-8950; urn:issn:0006-8950; urn:issn:1460-2156

الإتاحة: https://doi.org/10.1093/brain/awz326Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=57270Test

المؤلفون: van't Hoff, W., Cochat, P., Groothoff, J., Harambat, J., Frishberg, Y., Hulton, S., Magen, D., Hoppe, B., Lieske, J., Milliner, D.S., Deschenes, G.

المصدر: Kidney International Reports ; volume 4, issue 7, page S295 ; ISSN 2468-0249

مصطلحات موضوعية: Nephrology

الإتاحة: https://doi.org/10.1016/j.ekir.2019.05.734Test
https://api.elsevier.com/content/article/PII:S2468024919309301?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2468024919309301?httpAccept=text/plainTest

المؤلفون: Guirao, A., Molins, L., Guzman, R., Cleries, M., Vela, E., Magen, D., Sanchez, D., Boada, M., Espinas, J.A., Borras, J.M., Argimon, J.M., Agusti, A.

المصدر: Journal of Thoracic Oncology ; volume 13, issue 10, page S964-S965 ; ISSN 1556-0864

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Oncology

الإتاحة: https://doi.org/10.1016/j.jtho.2018.08.1812Test
https://api.elsevier.com/content/article/PII:S1556086418327709?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1556086418327709?httpAccept=text/plainTest

المؤلفون: Vivante, A, Mann, N, Yonath, H, Weiss, A-C, Getwan, M, Kaminski, MM, Bohnenpoll, T, Teyssier, C, Chen, J, Shril, S, van der Ven, AT, Ityel, H, Schmidt, JM, Widmeier, E, Bauer, SB, Sanna-Cherchi, S, Gharavi, AG, Lu, W, Magen, D, Shukrun, R, Lifton, RP, Tasic, V, Stanescu, HC, Cavaillès, V, Kleta, R, Anikster, Y, Dekel, B, Kispert, A, Lienkamp, SS, Hildebrandt, F

المصدر: Journal of the American Society of Nephrology , 28 (8) pp. 2364-2376. (2017)

مصطلحات موضوعية: CAKUT, NRIP1, retinoic acid

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1551010/1/Kleta_NRIP1_Manuscript_Ver%207-1-RK%20%282%29.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1551010Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1551010/1/Kleta_NRIP1_Manuscript_Ver%207-1-RK%20%282%29.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1551010Test/

المؤلفون: Magen D., Halloun R., Galderisi A., Caprio S., Weiss R.

المساهمون: Magen, D., Halloun, R., Galderisi, A., Caprio, S., Weiss, R.

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34725443; info:eu-repo/semantics/altIdentifier/wos/WOS:000713587700001; journal:INTERNATIONAL JOURNAL OF OBESITY; http://hdl.handle.net/11577/3409675Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85118375529

الإتاحة: https://doi.org/10.1038/s41366-021-01001-2Test
http://hdl.handle.net/11577/3409675Test

المؤلفون: Frishberg, Y., Deschenes, G., Cochat, P., Magen, D., Groothoff, J., Hulton, S.A., Harambat, J., Van’t Hoff, W., Hoppe, B., Lieske, J.C., McGregor, T.L., Tamimi, N., Haslett, P., Talamudupula, S., Erbe, D.V., Milliner, D.S.

المصدر: European Urology Supplements ; volume 18, issue 1, page e388-e389 ; ISSN 1569-9056

مصطلحات موضوعية: Urology

الإتاحة: https://doi.org/10.1016/s1569-9056Test(19)30291-x
https://api.elsevier.com/content/article/PII:S156990561930291X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S156990561930291X?httpAccept=text/plainTest

المؤلفون: Magen, D.

المصدر: Nephrology Dialysis Transplantation ; volume 17, issue 12, page 2261-2264 ; ISSN 1460-2385

مصطلحات موضوعية: Transplantation, Nephrology

الإتاحة: https://doi.org/10.1093/ndt/17.12.2261Test
http://academic.oup.com/ndt/article-pdf/17/12/2261/5155597/172261.pdfTest