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: 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: Paediatric Nephrology, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ARD - Amsterdam Reproduction and Development, UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - (SLuc) Service de néphrologie, CarMeN, laboratoire, 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: American journal of kidney diseases, 81(2), 145-155.e1. W.B. Saunders Ltd
American journal of kidney diseases : the official journal of the National Kidney Foundation, Vol. 81, no.2, p. 145-155.e1 (2023)
American Journal of Kidney Diseases, (2022)
American Journal of Kidney Diseases
American Journal of Kidney Diseases, 2022, S0272-6386 (22), pp.00771-5. ⟨10.1053/j.ajkd.2022.05.012⟩

مصطلحات موضوعية: Adult, Male, RNA interference (RNAi), safety, Lumasiran, urinary oxalate (UOx), Adolescent, [SDV]Life Sciences [q-bio], kidney disease, efficacy, Young Adult, nephrocalcinosis, glycolate, pharmacodynamics, Humans, Child, Hyperoxaluria, Oxalates, systemic oxalosis, hemodialysis, cardiac dysfunction, phase 3 clinical trial, Infant, Newborn, Infant, Middle Aged, adverse events, primary hyperoxaluria type 1 (PH1), [SDV] Life Sciences [q-bio], plasma oxalate (POx), anti-drug antibodies, pediatric, Nephrology, Child, Preschool, Hyperoxaluria, Primary, Female, Kidney Diseases, pharmacokinetics

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e766f52870784a99182763b902908469Test
https://doi.org/10.1053/j.ajkd.2022.05.012Test

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