Zobrazeno 1 - 10
of 56
pro vyhledávání: '"Nobre, Susana"'
Autor:
Hammann, Nicole, Lenz, Dominic, Baric, Ivo, Crushell, Ellen, Vici, Carlo Dionisi, Distelmaier, Felix, Feillet, Francois, Freisinger, Peter, Hempel, Maja, Khoreva, Anna L., Laass, Martin W., Lacassie, Yves, Lainka, Elke, Larson-Nath, Catherine, Li, Zhongdie, Lipiński, Patryk, Lurz, Eberhard, Mégarbané, André, Nobre, Susana, Olivieri, Giorgia, Peters, Bianca, Prontera, Paolo, Schlieben, Lea D., Seroogy, Christine M., Sobacchi, Cristina, Suzuki, Shigeru, Tran, Christel, Vockley, Jerry, Wang, Jian-She, Wagner, Matias, Prokisch, Holger, Garbade, Sven F., Kölker, Stefan, Hoffmann, Georg F., Staufner, Christian
Publikováno v:
In Molecular Genetics and Metabolism March 2024 141(3)
Autor:
Santos, Liliana, Nobre, Susana, Laezza, Nadia, Cunha, Catarina, Gonçalves, Isabel, Lopes, Maria F.
Publikováno v:
In Annals of Hepatology November-December 2017 16(6):941-949
Akademický článek
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Publikováno v:
Portuguese Journal of Pediatrics; Vol. 52 No. 4 (2021)
Portuguese Journal of Pediatrics; Vol. 52 N.º 4 (2021)
Portuguese Journal of Pediatrics; Vol. 52 N.º 4 (2021)
Phosphomannomutase 2 deficiency congenital disorder of glycosylation (PMM2-CDG), the most prevalent N-glycosylation disease, is a multi-organ disease with marked clinical heterogeneity. Severe liver involvement is not a common find in these patients.
Autor:
Ganhão, Inês, Borges, Catarina, Amorim, Marta, Braga da Cruz, Marisa, Nobre, Susana, Francisco, Telma, Cardoso, Dinorah, Abranches, Margarida
Publikováno v:
Portuguese Journal of Nephrology & Hypertension v.34 n.1 2020
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Portuguese Journal of Nephrology & Hypertension, Volume: 34, Issue: 1, Pages: 55-57, Published: MAR 2020
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Portuguese Journal of Nephrology & Hypertension, Volume: 34, Issue: 1, Pages: 55-57, Published: MAR 2020
Background: Primary hyperoxaluria type 1 is a rare autosomal recessive inherited disease, caused by mutations in AGXT gene, with an estimated incidence of 1:100.000 live births per year in Europe. Over 50% present with end stage renal disease at diag
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::4d691729d46f8e9978b8b213afce7b5e
http://www.scielo.mec.pt/scielo.php?script=sci_arttext&pid=S0872-01692020000100010
http://www.scielo.mec.pt/scielo.php?script=sci_arttext&pid=S0872-01692020000100010
Autor:
Climer, Leslie, Morelle, Willy, De Bettignies, Geoffroy, Krzewinski Recchi, Marie-Ange, Lupashin, Vladimir, Medina-Cano, Daniel, Ucuncu, Ekin, Nguyen, Lam Son, Nicouleau, Michael, Lipecka, Joanna, Bizot, Jean-Charles, Thiel, Christian, Lefort, Nathalie, Faivre-Sarrailh, Catherine, Colleaux, Laurence, Guerrera, Ida Chiara, Cantagrel, Vincent, Lebredonchel, Elodie, Garat, Anne, Legrand, Dominique, Decool, Valérie, Klein, André, Ouzzine, Mohamed, Gasnier, Bruno, Potelle, Sven, Groux‐Degroote, Sophie, Cogez, Virginie, Noel, Maxence, Portier, Lucie, Solórzano, Carlos, Dall'Olio, Fabio, Steenackers, Agata, Mortuaire, Marlène, Gonzalez‐Pisfil, Mariano, Henry, Mélanie, Heliot, Laurent, Harduin-Lepers, Anne, Berthe, Audrey, Zaffino, Marie, Muller, claire, Houdou, Marine, Schulz, Céline, Bost, Frédéric, De Fay, Elia, Mazerbourg, Sabine, Flament, Stéphane, Mouajjah, Dounia, Ashikov, Angel, Abu Bakar, Nurulamin, Wen, Xiao-Yan, Niemeijer, Marco, Rodrigues Pinto Osorio, Glentino, Brand-Arzamendi, Koroboshka, Hasadsri, Linda, Hansikova, Hana, Raymond, Kimiyo, Ondruskova, Nina, Simon, Marleen, Pfundt, Rolph, Timal, Sharita, Beumers, Roel, Smeets, Roel, Kersten, Marjan, Huijben, Karin, Linders, Peter, van den Bogaart, Geert, van Hijum, Sacha, Rodenburg, Richard, van den Heuvel, Lambertus, Van Spronsen, Francjan, Honzik, Tomas, van Scherpenzeel, Monique, Lefeber, Dirk, Mirjam, Wamelink, Han, Brunner, Helen, Mundy, Helen, Michelakakis, Peter, van Hasselt, Jiddeke, van de Kamp, Diego, Martinelli, Lars, Morkrid, Katja, Brocke Holmefjord, Jozef, Hertecant, Majid, Alfadhel, Kevin, Carpenter, Johann, te Water Naude, Delos, Maxime, Hellec, Charles, Fifre, Alexandre, Carpentier, Mathieu, Papy-Garcia, Dulce, Allain, Fabrice, Denys, Agnés, Gilormini, Pierre André, Lion, Cédric, Vicogne, Dorothée, Guerardel, Yann, Biot, Christophe, Witters, Peter, Breckpot, Jeroen, Preston, Graem, Morava, Eva, Rujano, Maria, Cannata Serio, Magda, Panasyuk, Ganna, Reunert, Janine, Hauser, Virginie, Park, Julien, Freisinger, Peter, Guida, Maria Clara, Maier, Esther, Wada, Yoshinao, Jäger, Stefanie, Krogan, Nevan, Kretz, Oliver, Nobre, Susana, Garcia, Paula, Quelhas, Dulce, Bird, Thomas, Raskind, Wendy, Schwake, Michael, Duvet, Sandrine, Marquardt, Thorsten, Simons, Matias, Blommaert, Eline, Péanne, Romain, Cherepanova, Natalia, Rymen, Daisy, Staels, Frederik, Jaeken, Jaak, Race, Valérie, Keldermans, Liesbeth, Souche, Erika, Corveleyn, Anniek, Sparkes, Rebecca, Bhattacharya, Kaustuv, Devalck, Christine, Schrijvers, Rik, Foulquier, Francois, Gilmore, Reid, Matthijs, Gert
Publikováno v:
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 2019, ⟨10.1002/jimd.12161⟩
Journal of Inherited Metabolic Disease, Springer Verlag, 2019, ⟨10.1002/jimd.12161⟩
Journal of Inherited Metabolic Disease, Springer Verlag, 2019, 214 (12), pp.201817815. ⟨10.1002/jimd.12161⟩
Journal of Inherited Metabolic Disease, 2019, ⟨10.1002/jimd.12161⟩
Journal of Inherited Metabolic Disease, Springer Verlag, 2019, ⟨10.1002/jimd.12161⟩
Journal of Inherited Metabolic Disease, Springer Verlag, 2019, 214 (12), pp.201817815. ⟨10.1002/jimd.12161⟩
TMEM165 is involved in a rare genetic human disease named TMEM165‐CDG (congenital disorders of glycosylation). It is Golgi localized, highly conserved through evolution and belongs to the uncharacterized protein family 0016 (UPF0016). The use of is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fc6c15a6e3ead5ae272f2f6a2e0ad76
https://hal.science/hal-02399421
https://hal.science/hal-02399421
Autor:
Nobre, Susana Maria Falcão
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Submitted by Maria Helena Ribeiro (helena.ribeiro@lisboa.ucp.pt) on 2020-05-26T11:01:38Z No. of bitstreams: 1 Relatório da PES- Versão Final.pdf: 1377067 bytes, checksum: f6f762fdbcae37ed94022a25923ee154 (MD5) Approved for entry into archive by Mar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3056::083f7333f70144781b7949f22985c82e
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Portuguese Journal of Pediatrics, Vol 42, Iss 6 (2014)
Acta Pediátrica Portuguesa; v. 42, n. 6 (2011); Pag. 269-273
Portuguese Journal of Pediatrics (former Acta Pediátrica Portuguesa); Vol. 42 No. 6 (2011); Pag. 269-273
Portuguese Journal of Pediatrics; vol. 42 n.º 6 (2011); Pag. 269-273
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Acta Pediátrica Portuguesa; v. 42, n. 6 (2011); Pag. 269-273
Portuguese Journal of Pediatrics (former Acta Pediátrica Portuguesa); Vol. 42 No. 6 (2011); Pag. 269-273
Portuguese Journal of Pediatrics; vol. 42 n.º 6 (2011); Pag. 269-273
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Introdução: Na idade pediátrica, a traqueostomia associa-se a morbimortalidade significativa e tem indicações limitadas que têm vindo a sofrer alterações. O objectivo deste estudo foi avaliar a experiência de um Hospital Pediátrico terciár