المؤلفون: Servais, A., Janssen, M. C. H., Blakey, H., Greco, M., Lemoine, S., Martin-Moreno, P. L., Game, D., Levtchenko, E., Lipkin, G.

المساهمون: Département de Néphrologie CHU Necker, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte CHU-Necker (MARHEA), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Descartes - Paris 5 (UPD5), Radboud University Medical Center Nijmegen, Queens Elizabeth Hospital Birmingham, IRCCS Ospedale Pediatrico Bambino Gesù = Bambino Gesù Children’s Hospital, 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), Hôpital Edouard Herriot CHU - HCL, Hospices Civils de Lyon (HCL), Navarra Institute for Health Research / Instituto de Investigación Sanitaria de Navarra (IdiSNA), Universidad Pública de Navarra Espagne = Public University of Navarra (UPNA)-Universidad de Navarra Pamplona (UNAV)-Clínica Universidad de Navarra Pamplona, Guy's and St Thomas' Hospital London, Department of Development and Regeneration, Catholic University of Leuven = Katholieke Universiteit Leuven (KU Leuven), University Hospitals Leuven Leuven, Metabolic Nephropathy Workgroup of the European Reference Network for Rare Kidney Diseases (ERKNet) and the ERA working groups on inherited kidney diseases (WGIKD)

المصدر: ISSN: 0141-8955.

مصطلحات موضوعية: cesarean section, cysteamine, cystinosis, pre-eclampsia, pregnancy, renal transplantation, [SDV]Life Sciences [q-bio]

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35713960; inserm-03830408; https://inserm.hal.science/inserm-03830408Test; PUBMED: 35713960

الإتاحة: https://doi.org/10.1002/jimd.12529Test
https://inserm.hal.science/inserm-03830408Test

المؤلفون: Berlingerio, S.P., He, J.L., Groef, L. de, Taeter, H., Norton, T., Baatsen, P., Cairoli, S., Goffredo, B., Witte, P. de, Heuvel, L. van den, Baelde, H.J., Levtchenko, E.

المصدر: International Journal of Molecular Sciences

مصطلحات موضوعية: kidney disease, cystinosis, zebrafish model, renal and extra renal manifestation, adult phenotypic features

وصف الملف: application/pdf

العلاقة: https://www.mdpi.com/1422-0067/22/17/9398/pdfTest; lumc-id: 122648470; https://hdl.handle.net/1887/3270960Test

الإتاحة: https://doi.org/10.3390/ijms22179398Test
https://hdl.handle.net/1887/3270960Test
https://www.mdpi.com/1422-0067/22/17/9398/pdfTest

المؤلفون: Wamelink, M. M. C., Struys, E. A., Jansen, E. E. W., Blom, H. J., Vilboux, T., Gahl, W. A., Komhoff, M., Jakobs, C., Levtchenko, E. N.

المصدر: Wamelink , M M C , Struys , E A , Jansen , E E W , Blom , H J , Vilboux , T , Gahl , W A , Komhoff , M , Jakobs , C & Levtchenko , E N 2011 , ' Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion : Implications for diagnostics and neonatal screening ' , Molecular Genetics and Metabolism , vol. 102 , no. 3 , pp. 339-342 . https://doi.org/10.1016/j.ymgme.2010.12.002Test ; ISSN:1096-7192

مصطلحات موضوعية: Cystinosis, Sedoheptulose, Dried bloodspots, 57-kb deletion, LC-MS/MS, ORAL CYSTEAMINE THERAPY, NEPHROPATHIC CYSTINOSIS, GENE, CTNS, DEFICIENCY, LEUKOCYTES

الإتاحة: https://doi.org/10.1016/j.ymgme.2010.12.002Test
http://hdl.handle.net/11370/0032980d-beb4-49ac-960e-a0ac375558b3Test
https://research.rug.nl/en/publications/elevated-concentrations-of-sedoheptulose-in-bloodspots-of-patients-withTest-cystinosis-caused-by-the-57kb-deletion(0032980d-beb4-49ac-960e-a0ac375558b3).html

المؤلفون: Martine Besauw, Pelt, A., Héloïse Chevronnay, Pierre Courtoy, Anna Pastore, Ellen Goossens, Olivier Devuyst, Corinne Antignac, Levtchenko, E.

المساهمون: Department of Embryology and Genetics, Biology of the Testis

المصدر: Vrije Universiteit Brussel

مصطلحات موضوعية: cystinosis, non-obstructive azoospermia, testis, infertility, epididymis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d4f9496b9c8863321875c10d17b88a88Test
https://biblio.vub.ac.be/vubir/studying-nonobstructive-azoospermia-inTest-cystinosis-histological-examination-of-testes-and-epididymis-and-sperm-analysis-in-a-ctns-mouse-model(8aa4cca4-ee21-4e98-8487-35494947423b).html

المؤلفون: Edens, M. A., van Son, W. J., de Greef, M. H. G., Levtchenko, E. N., Blijham, T., Wijkstra, P. J.

المصدر: Edens , M A , van Son , W J , de Greef , M H G , Levtchenko , E N , Blijham , T & Wijkstra , P J 2006 , ' Successful treatment of respiratory dysfunction in cystinosis by nocturnal non-invasive positive pressure ventilation ' , CLINICAL NEPHROLOGY , vol. 66 , no. 4 , pp. 306-309 .

مصطلحات موضوعية: cystinosis, diaphragm myopathy, respiratory dysfunction, NIPPV, NEPHROPATHIC CYSTINOSIS, HYPOVENTILATION, PREGNANCY, MYOPATHY, PATIENT, STORAGE

العلاقة: https://research.rug.nl/en/publications/c331b49e-defa-429e-8643-9a612950e7a1Test

الإتاحة: https://hdl.handle.net/11370/c331b49e-defa-429e-8643-9a612950e7a1Test
https://research.rug.nl/en/publications/c331b49e-defa-429e-8643-9a612950e7a1Test

المؤلفون: Elena Levtchenko, Aude Servais, Sally A Hulton, Gema Ariceta, Francesco Emma, David S Game, Karin Lange, Risto Lapatto, Hong Liang, Rebecca Sberro-Soussan, Rezan Topaloglu, Anibh M Das, Nicholas J A Webb, Christoph Wanner

المساهمون: Institut Català de la Salut, [Levtchenko E] Department of Pediatrics, University Hospitals Leuven Campus Gasthuisberg, KU Leuven, Leuven, Belgium. [Servais A] Nephrology and Transplantation Department, Hôpital Necker Enfants Malades APHP, Paris, France. [Hulton SA] Department of Nephrology, Birmingham Women’s and Children’s Hospital NHS Foundation Trust, Birmingham, UK. [Ariceta G] Servei de Nefrologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Emma F] Division of Nephrology and Dialysis, Ospedale Pediatrico Bambino Gesù-IRCCS, Rome, Italy. [Game DS] Department of Renal Medicine, Guy’s and St Thomas’ NHS Foundation Trust, London, UK, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientia

مصطلحات موضوعية: Cistinosi - Tractament, administración de los servicios de salud::gestión de la atención al paciente::tratamiento de las enfermedades [ATENCIÓN DE SALUD], Qüestionaris, ILLNESS, Behavior and Behavior Mechanisms::Psychology, Social::Group Processes::Consensus [PSYCHIATRY AND PSYCHOLOGY], conducta y mecanismos de la conducta::psicología social::procesos de grupo::consenso [PSIQUIATRÍA Y PSICOLOGÍA], multidisciplinary care, NEPHROPATHIC CYSTINOSIS, consensus statements, cysteamine, enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::alteraciones congénitas del metabolismo::enfermedades por almacenamiento lisosómico::cistinosis [ENFERMEDADES], Health Services Administration::Patient Care Management::Disease Management [HEALTH CARE], OUTCOMES, Transplantation, Science & Technology, MUTATIONS, Presa de decisions, Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Lysosomal Storage Diseases::Cystinosis [DISEASES], rare diseases, NATURAL-HISTORY, Urology & Nephrology, clinical recommendations, cystinosis, CRYSTALS, disease management, Nephrology, adult and adolescent, SUCCESSFUL PREGNANCY, Life Sciences & Biomedicine, checklist

وصف الملف: Electronic-eCollection; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a42da40622b877472685bc2cac83f1bTest
https://doi.org/10.1093/ckj/sfac099Test