Zobrazeno 1 - 10
of 123
pro vyhledávání: '"Guelbert, N"'
Autor:
Larroudé, M.S. *, Aguilar, G., Rossi, I., Drelichman, G., Fernandez Escobar, N., Basack, N., Slago, M., Schenone, A., Fynn, A., Cuello, M.F., Fernandez, R., Ruiz, A., Reichel, P., Guelbert, N., Robledo, H., Watman, N., Bolesina, M., Elena, G., Veber, S.E., Pujal, G., Galvan, G., Chain, J.J., Arizo, A., Bietti, J., Aznar, M., Dragosky, M., Marquez, M., Feldman, L., Muller, K., Zirone, S., Buchovsky, G., Lanza, V., Fernandez, I., Jaureguiberry, R., Barbieri, M.A., Maro, A., Zarate, G., Fernandez, G., Rapetti, M., Degano, A., Kantor, G., Albina, A., Alvarez Bollea, M., Arrocena, H., Bacciedoni, V., Del Rio, F.
Publikováno v:
In Journal of Clinical Densitometry October 2016 19(4):444-449
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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Autor:
Sundberg, E., Magnusson, B., Ferreira, C. R., Grant, C., Mitchell, J., Paul Harmatz, Mungan, N. O., Bulut, F. D., Lampe, C., Guelbert, N., Arslan, N., Makay, B., Puri, R. D., Bijarnia-Mahay, S., Selim, L., El Din, I. Gamal, Kapoor, S., Dirocco, M., Ozen, S., Batu, E. D., Gokcay, G., Torcoletti, M., Karafilidis, J., Solyom, A.
Publikováno v:
Web of Science
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::42533d9ea5669db3831d0961f2f6254b
https://avesis.deu.edu.tr/publication/details/15b8dd89-23cd-444f-99b4-7c442cf51584/oai
https://avesis.deu.edu.tr/publication/details/15b8dd89-23cd-444f-99b4-7c442cf51584/oai
Publikováno v:
Joint-Meeting of the German Society for Neuropathology and Neuroanatomy (DGNN) and the Scandinavian Neuropathological Society (SNS); 20160922-20160924; Hamburg; DOC16dgnnP30 /20160914/
Introduction: NCL are severe inherited neurodegenerative diseases that occur in all ages. They manifest as refractory epileptic syndrome with progressive intractable seizures, visual failure, dementia, movement disorders, and early death. Mutations i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af0885fd054825b923bbe24b01735815
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Solyom, A., Huegle, B., Magnusson, B., Makay, B., Arslan, N., Mitchell, J., Tanpaiboon, P., Guelbert, N., Puri, R., Jung, L., Giedre Grigelioniene, Ehlert, K., Beck, M., Simonaro, C., Schuchman, E.
Publikováno v:
ResearcherID
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ed9a99d2e2ebc985dc26596ab8c6578d
https://avesis.deu.edu.tr/publication/details/2a7004fb-60a8-4021-8385-574d28c4324a/oai
https://avesis.deu.edu.tr/publication/details/2a7004fb-60a8-4021-8385-574d28c4324a/oai
Autor:
Kohan, R., Pesaola, F., Guelbert, N., Pons, P., Oller de Ramirez, A.M., Rautenberg, G., Becerra, A., Sims, K., Xin, W., Cismondi, I.A.
Publikováno v:
Repositorio Digital Universitario (UNC)
Universidad Nacional de Córdoba
instacron:UNC
Universidad Nacional de Córdoba
instacron:UNC
Background: The Argentinean programwas initiatedmore than a decade ago as the first experience of systematic translational research focused on NCL in Latin America. The aim was to overcome misdiagnoses and underdiagnoses in the region. Subjects: 216
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3056::3cefc88face9f0189a14a223672fb4ab
Autor:
Noher de Halac, I, Pons, P, Carabelos, N, Guelbert, N, Dodelson de Kremer, R, Cismondi, IA, Alonso, GI, Oller-Ramirez, AM, Kohan, R
Publikováno v:
57th Annual Meeting of the German Society for Neuropathology and Neuroanatomy (DGNN); 20120912-20120915; Erlangen; DOC12dgnnPP4.6 /20120911/
CLN2 (OMIM #204500) is a children's neurodegenerative disorder resulting from a deficiency of the lysosomal enzyme Tripeptidyl-Peptidase-1 (TPP1) encoded by the geneTPP1/CLN2. Inheritance is autosomal recessive. The aim was to investigate the possibl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96b37068fa81f95afd97feae15b7350b
Autor:
Millon, Mbb, Delgado, Ma, Azar, Nb, Guelbert, N, Sturiale, L, Garozzo, Domenico, Matthijs, G, Jaeken, J, de Kremer RD, Asteggiano, Cg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______4731::6b69cca074453bc3297a7681e6899c79
http://hdl.handle.net/20.500.11769/241609
http://hdl.handle.net/20.500.11769/241609
Autor:
Burton, B.K., Guffon, N., Roberts, J., van der Ploeg, A.T., Jones, S.A., on behalf of the HOS investigators: Guelbert, N. ..., Barić, Ivo, Barišić, Ingeborg, Ibrahim, J.
Publikováno v:
Molecular Genetics and Metabolism, 101, 123-129. Academic Press
Objestive waa to use our experience with patients in the observational database HOS - the Hunter Outcome Survey - to evaluate the feasibility of home infusions of idursulfase for patients with mucopolysaccharidosis type II (MPS II). Data were collect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b52d1ab01b91674f5bc476ea133548e6
http://hdl.handle.net/11577/2450330
http://hdl.handle.net/11577/2450330