Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Oller-Ramirez AM"'
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:
Pesaola F; Hospital de Ninos de la Santisima Trinidad, Cordoba, Argentina.; Consejo Nacional de Investigaciones Cientificas y Tecnicas de Argentina (CONICET), Cordoba, Argentina., Kohan R; Universidad Nacional de Cordoba. Facultad de Odontologia, Cordoba, Argentina., Cismondi IA; Hospital de Ninos de la Santisima Trinidad, Cordoba, Argentina.; Universidad Nacional de Cordoba. Facultad de Odontologia, Cordoba, Argentina., Guelbert N; Hospital de Ninos de la Santisima Trinidad, Cordoba, Argentina., Pons P; Universidad Nacional de Cordoba. Facultad de Ciencias Medicas., Cordoba, Argentina., Oller-Ramirez AM; Hospital de Ninos de la Santisima Trinidad, Cordoba, Argentina.; Consejo Nacional de Investigaciones Cientificas y Tecnicas de Argentina (CONICET), Cordoba, Argentina., Noher de Halac I; Hospital de Ninos de la Santisima Trinidad, Cordoba, Argentina.; Consejo Nacional de Investigaciones Cientificas y Tecnicas de Argentina (CONICET), Cordoba, Argentina.
Publikováno v:
Revista de neurologia [Rev Neurol] 2019 Feb 16; Vol. 68 (4), pp. 155-159.
Autor:
Zampieri S; Regional Coordinator Center for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy., Cattarossi S, Oller Ramirez AM, Rosano C, Lourenco CM, Passon N, Moroni I, Uziel G, Pettinari A, Stanzial F, de Kremer RD, Azar NB, Hazan F, Filocamo M, Bembi B, Dardis A
Publikováno v:
PloS one [PLoS One] 2012; Vol. 7 (7), pp. e41516. Date of Electronic Publication: 2012 Jul 27.
Autor:
Kohan R; Center for the Study of Inherited Metabolic Diseases (CEMECO),Children's Hospital, Department of Medical Sciences, National University Cordoba, Argentina. nclcemeco@nclcemeco.com.ar, Cismondi IA, Oller-Ramirez AM, Guelbert N, Anzolini TV, Alonso G, Mole SE, de Kremer DR, de Halac NI
Publikováno v:
Current pharmaceutical biotechnology [Curr Pharm Biotechnol] 2011 Jun; Vol. 12 (6), pp. 867-83.
Autor:
Oller Ramirez AM; CEMECO, Center of Inherited Metabolic Diseases, Pediatric Clinic, Faculty of Medicine, National University of Córdoba,Ferroviarios, 1250, X5014AKN, Córdoba, Argentinia. ramirezoller@gmail.com, Coll MJ, Chabás A, Azar NB, Ghio AV, Kremer RD
Publikováno v:
Human genetics [Hum Genet] 2008 Jun; Vol. 123 (5), pp. 546.
Autor:
Oller Ramirez AM; CEMECO, Center of Inherited Metabolic Diseases, Pediatric Clinic, Faculty of Medicine, National University of Córdoba, Ferroviarios, 1250, X5014AKN, Córdoba, Argentinia. ramirezoller@gmail.com, Coll MJ, Chabás A, Azar NB, Ghio AV, Kremer RD
Publikováno v:
Human genetics [Hum Genet] 2008 Jun; Vol. 123 (5), pp. 545.