المؤلفون: Azukaitis, K, Ju, WJ, Kirchner, M, Nair, V, Smith, M, Fang, ZY, Thurn-Valsassina, D, Bayazit, A, Niemirska, A, Canpolat, N, Bulut, IK, Yalcinkaya, F, Paripovic, D, Harambat, J, Cakar, N, Alpay, H, Lugani, F, Mencarelli, F, Civilibal, M, Erdogan, H, Gellermann, J, Vidal, E, Tabel, Y, Gimpel, C, Ertan, P, Yavascan, O, Melk, A, Querfeld, U, Wuhl, E, Kretzler, M, Schaefer, F, Arbeiter, K, Rosales, A, Dusek, J, Zaloszyc, A, Liebau, M, Weber, L, Muschiol, E, Buscher, R, Oh, J, Thurn-Valassina, D, Haffner, D, John, U, Wygoda, S, Jeck, N, Wigger, M, Testa, S, Murer, L, Matteucci, C, Jankauskiene, A, Drozdz, D, Zurowska, A, Zaniew, M, Litwin, M, Nimierska, A, Teixeira, A, Peco-Antic, A, Laube, G, Anarat, A, Duzova, A, Bilginer, Y, Caliskan, S, Mir, S, Sozeri, B, Kranz, B, Dorn, B, Baskin, E, Soylemezoglu, O, Emre, S, Candan, C, Kiyak, A, Ozcelik, G, Shroff, R, Rachin, B, Szczepanska, M, Donmez, O, Balat, A, Aksu, N, Yilmaz, E, Bakkaloglu, A, Ozaltin, F, Sallay, P, Bonzel, KE, Wingen, AM, Urowska, AZ, Balasz, I, Trivelli, A, Perfumo, F, Muller-Wiefel, DE, Moller, K, Offner, G, Enke, B, Hadtstein, C, Mehls, O, Hohbach-Hohenfellner, K, Klaus, G, Ardissino, G, Montini, G, Charbit, M, Niaudet, P, Afonso, AC, Fernandes-Teixeira, A, Picca, S, Berg, UB, Celsi, G, Fischbach, M, Terzic, J, Fydryk, J, Urasinski, T, Coppo, R, Peruzzi, L, Grenda, R, Neuhaus, TJ

المصدر: Kidney international. 96(1):214-221

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:141177503Test

المؤلفون: Belot A, Bader-Meunier B, Noel LH, Prieur AM, Niaudet P, Salomon R, Quartier P

المصدر: Pediatric Rheumatology Online Journal, Vol 6, Iss Suppl 1, p P25 (2008)

مصطلحات موضوعية: Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1546-0096Test

الوصول الحر: https://doaj.org/article/4085f045630a49608dbaa921b0d5701eTest

المؤلفون: Bouazza Naïm, Tréluyer Jean-Marc, Ottolenghi Chris, Urien Saik, Deschenes Georges, Ricquier Daniel, Niaudet Patrick, Chadefaux-Vekemans Bernadette

المصدر: Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 86 (2011)

مصطلحات موضوعية: population pharmacokinetics, pharmacodynamics, cysteamine, cystinosis, Medicine

وصف الملف: electronic resource

العلاقة: http://www.ojrd.com/content/6/1/86Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/19c839966e2c4e3db9a39d0696d84cffTest

المؤلفون: Colin Niaudet, Bongnam Jung, Andrew Kuo, Steven Swendeman, Edward Bull, Takahiro Seno, Reed Crocker, Zhongjie Fu, Lois E H Smith, Timothy Hla

المصدر: EMBO Molecular Medicine, Vol 15, Iss 5, Pp n/a-n/a (2023)

مصطلحات موضوعية: neovascularization, Sphingosine‐1‐phosphate (S1P), vascular retinopathy, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1757-4676Test; https://doaj.org/toc/1757-4684Test

الوصول الحر: https://doaj.org/article/baf615af7db14d7584f85d219c23d926Test

المؤلفون: Andrew Kuo, Antonio Checa, Colin Niaudet, Bongnam Jung, Zhongjie Fu, Craig E Wheelock, Sasha A Singh, Masanori Aikawa, Lois E Smith, Richard L Proia, Timothy Hla

المصدر: eLife, Vol 11 (2022)

مصطلحات موضوعية: sphingolipid metabolism, angiogenesis, lipid homeostasis, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://elifesciences.org/articles/78861Test; https://doaj.org/toc/2050-084XTest

الوصول الحر: https://doaj.org/article/e21f8001eecc472486c15e1a9e2ebd82Test

المؤلفون: Servais, A., Guguen, S., Hogan, J., Bertholet-Thomas, A., Lemoine, S., Novo, R., Kormann, R., Toulait, L., Niaudet, P.

المساهمون: Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Rare Disease Cohorts (RaDiCo), Maladies génétiques d'expression pédiatrique (U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), AP-HP Hôpital universitaire Robert-Debré Paris, Hospices Civils de Lyon (HCL), Hôpital Jeanne de Flandre Lille, Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)

المصدر: Congrès Société Francophone de Néphrologie, Dialyse et Transplantation (SFNDT) ; https://inserm.hal.science/inserm-04056514Test ; Congrès Société Francophone de Néphrologie, Dialyse et Transplantation (SFNDT), Oct 2022, Rennes (FR), France. pp.313, ⟨10.1016/j.nephro.2022.07.249⟩

مصطلحات موضوعية: Cystinose, insuffisance rénale terminale, complications, [SDV]Life Sciences [q-bio]

جغرافية الموضوع: Rennes (FR), France

العلاقة: inserm-04056514; https://inserm.hal.science/inserm-04056514Test; https://inserm.hal.science/inserm-04056514/documentTest; https://inserm.hal.science/inserm-04056514/file/2022-10-04_ECYSCO_SFNDT_Rennes.pdfTest

الإتاحة: https://doi.org/10.1016/j.nephro.2022.07.249Test
https://inserm.hal.science/inserm-04056514Test
https://inserm.hal.science/inserm-04056514/documentTest
https://inserm.hal.science/inserm-04056514/file/2022-10-04_ECYSCO_SFNDT_Rennes.pdfTest

المؤلفون: Lenkkeri, U, Mannikko, M, McCready, P, Lamerdin, J, Gribouval, O, Niaudet, P, Antignac, C, Kashtan, CE, Holmberg, C, Olsen, A, Kestila, M, Tryggvason, K

المصدر: American journal of human genetics. 64(1):51-61

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:1931465Test

المؤلفون: Arnold, Thomas D, Niaudet, Colin, Pang, Mei-Fong, Siegenthaler, Julie, Gaengel, Konstantin, Jung, Bongnam, Ferrero, Gina M, Mukouyama, Yoh-suke, Fuxe, Jonas, Akhurst, Rosemary, Betsholtz, Christer, Sheppard, Dean, Reichardt, Louis F

المصدر: Development. 141(23)

مصطلحات موضوعية: Brain Disorders, Stroke, Stem Cell Research - Nonembryonic - Non-Human, Neurosciences, Stem Cell Research, 1.1 Normal biological development and functioning, 2.1 Biological and endogenous factors, Aetiology, Underpinning research, Cardiovascular, Analysis of Variance, Animals, Blood-Brain Barrier, Brain, Cell Count, Cerebral Hemorrhage, Endothelial Cells, Immunohistochemistry, Integrins, Mice, Microscopy, Confocal, Neovascularization, Pathologic, Signal Transduction, Transforming Growth Factor beta, Angiogenesis, CNS, Hemorrhage, Sprouting, Integrin alpha V beta 8, TGF beta, Mouse, Integrin αVβ8, TGFβ, Biological Sciences, Medical and Health Sciences

الوصول الحر: https://escholarship.org/uc/item/0k9975z5Test

المؤلفون: Emma, Francesco, Nesterova, Galina, Langman, Craig, Labbé, Antoine, Cherqui, Stephanie, Goodyer, Paul, Janssen, Mirian C, Greco, Marcella, Topaloglu, Rezan, Elenberg, Ewa, Dohil, Ranjan, Trauner, Doris, Antignac, Corinne, Cochat, Pierre, Kaskel, Frederick, Servais, Aude, Wühl, Elke, Niaudet, Patrick, Hoff, William Van't, Gahl, William, Levtchenko, Elena

المصدر: Nephrology Dialysis Transplantation. 29(suppl_4)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Kidney Disease, Rare Diseases, Pediatric, Child, Cystinosis, Fanconi Syndrome, Humans, Practice Guidelines as Topic, Societies, Medical, CTNS gene, cysteamine treatment, cystinosis, extra-renal complications, renal Fanconi syndrome, Urology & Nephrology, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0dv4v0ntTest

المؤلفون: Emma, F, Hoff, WV, Hohenfellner, K, Topaloglu, R, Greco, M, Ariceta, G, Bettini, C, Bockenhauer, D, Veys, K, Pape, L, Hulton, S, Collin, S, Ozaltin, F, Servais, A, Deschênes, G, Novo, R, Bertholet-Thomas, A, Oh, J, Cornelissen, E, Janssen, M, Haffner, D, Ravà, L, Antignac, C, Devuyst, O, Niaudet, P, Levtchenko, E

المصدر: Kidney International , 100 (5) pp. 1112-1123. (2021)

مصطلحات موضوعية: Cysteamine, chronic kidney disease, end-stage kidney disease, growth, leucocyte cystine levels, renal Fanconi syndrome

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10131173/1/1-s2.0-S0085253821006487-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10131173Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10131173/1/1-s2.0-S0085253821006487-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10131173Test/