Zobrazeno 1 - 10 of 22 pro vyhledávání: '"Elisa Leao Teles"'
1
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
Autor: Georg F. Vogel, Yael Mozer-Glassberg, Yuval E. Landau, Lea D. Schlieben, Holger Prokisch, René G. Feichtinger, Johannes A. Mayr, Heiko Brennenstuhl, Julian Schröter, Agnes Pechlaner, Fowzan S. Alkuraya, Joshua J. Baker, Giulia Barcia, Ivo Baric, Nancy Braverman, Birute Burnyte, John Christodoulou, Elzbieta Ciara, David Coman, Anibh M. Das, Niklas Darin, Adela Della Marina, Felix Distelmaier, Erik A. Eklund, Melike Ersoy, Weiyan Fang, Pauline Gaignard, Rebecca D. Ganetzky, Emmanuel Gonzales, Caoimhe Howard, Joanne Hughes, Vassiliki Konstantopoulou, Melis Kose, Marina Kerr, Aneal Khan, Dominic Lenz, Robert McFarland, Merav Gil Margolis, Kevin Morrison, Thomas Müller, Kei Murayama, Emanuele Nicastro, Alessandra Pennisi, Heidi Peters, Dorota Piekutowska-Abramczuk, Agnès Rötig, René Santer, Fernando Scaglia, Manuel Schiff, Mohmmad Shagrani, Mark Sharrard, Claudia Soler-Alfonso, Christian Staufner, Imogen Storey, Michael Stormon, Robert W. Taylor, David R. Thorburn, Elisa Leao Teles, Jian-She Wang, Daniel Weghuber, Saskia Wortmann
Publikováno v: Genetics in Medicine, 25, 6
Genet. Med., 100314 (2022)
Genetics in Medicine, 25
Purpose: The study aimed to define the genotypic and phenotypic spectrum of reversible acute liver failure (ALF) of infancy resulting from biallelic pathogenic TRMU variants and to determine the role of cysteine supplementation in its treatment. Meth
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34d2d162b7b4a0245f739ac55e7b742a
https://doi.org/10.1016/j.gim.2022.09.015
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2
Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network
Autor: Heard, Jean-Michel, Vrinten, Charlotte, Schlander, Michael, Bellettato, Cinzia Maria, van Lingen, Corine, Scarpa, Maurizio, Gert, Matthijs, Marie-Cécile, Nassogne, François-Guillaume, Debray, Dominique, Roland, Teodora, Chamova, Viktor, Kozich, Jesina, Pavel, Martin, Zenker, Christina, Lampe, Anihb Martin Das, Julia, Hennermann, Stefan, Kölker, Natalie, Weinhold, Klaus, Mohnike, Sarah, Gruenert, Allan Meldgaard Lund, Montserrat, Morales-Conejo, Mireia Del Toro-Riera, Luis, Aldámiz-Echevarría, Maria-Teresa, Garcia-Silva, Manuel, Schiff, Laurent, Gouya, Pascale de Lonlay, Nadia, Belmatoug, Dominique, P Germain, Aline, Cano, Dries, Dobbelaere, Simon, Jones, Charlotte, Dawson, Patrick, Deegan, Saikat, Santra, Suresh, Vijay, Danijela Petkovic Ramadza, Ivo, Barić, Tamara, Žigman, György, Pflieger, Katalin, Szakszon, Rita, Kaposta, Serena, Gasperini, Alberto, Burlina, Giancarlo, Parenti, Pietro, Strisciuglio, Giovanni, Ceccarini, Antonio, Federico, Simonati, Alessandro, Birute, Tumiene, Hidde, Huidekoper, Francian van Spronsen, Annet, Bosch, Maria-Estela, Rubio-Gozalbo, Gepke, Visser, Trine, Tangeraas, Aasne, Aarsand, Beata, Kieć-Wilk, Ana-Maria Simões Mendes Gaspar, Dulce, Quelhas, Elisa, Leao-Teles, Olga, Azevedo, Esmeralda-Maria Ferreira Rodriges Silva, Luísa-Maria de Abreu Freire Diogo Matos, Esmeralda, Martins, Svetlana, Lajic, Niklas, Darin, Urh, Groselj, Mojca-Zerjav, Tansek
Publikováno v: Orphanet journal of rare diseases, London : BMC, 2020, vol. 15, no. 1, art. no. 3, p. [1-7]
Orphanet journal of rare diseases, Vol. 15, no. 1, p. 3 [1-10] (2020)
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Orphanet Journal of Rare Diseases, 15(1):3. BioMed Central Ltd.
Orphanet Journal of Rare Diseases, 15(1):3. BioMed Central Ltd
Orphanet journal of rare diseases, 15(1):3. BioMed Central
Background The European Medicine Agency granted marketing approval to 164 orphan medicinal products for rare diseases, among which 28 products intended for the treatment of hereditary metabolic diseases. Taking advantage of its privileged connection
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a4bc53a73c6dd8801f1b116f34a52535
https://doi.org/10.1186/s13023-019-1280-5
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3
Akademický článek
The challenge of understanding and predicting phenotypic diversity in urea cycle disorders.
Autor: Posset, Roland, Zielonka, Matthias, Gleich, Florian, Garbade, Sven F., Hoffmann, Georg F., Kölker, Stefan
Publikováno v: Journal of Inherited Metabolic Disease; Nov2023, Vol. 46 Issue 6, p1007-1016, 10p
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6
Akademický článek
Development of a mnemonic screening tool for identifying subjects with Hunter syndrome.
Autor: Cohn, Gabriel1 gcohn@shire.com, Morin, Isabelle2, Whiteman, David1
Publikováno v: European Journal of Pediatrics. Jul2013, Vol. 172 Issue 7, p965-970. 6p. 3 Charts, 3 Graphs.
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7
Akademický článek
De Barsy syndrome and ATP6V0A2-CDG.
Autor: Leao-Teles, Elisa1, Quelhas, Dulce2, Vilarinho, Laura2, Jaeken, Jaak3 jaak.jaeken@uzleuven.be
Publikováno v: European Journal of Human Genetics. May2010, Vol. 18 Issue 5, p526-526. 1p.
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8
Akademický článek
Reply to Leao-Teles et al.
Autor: Morava, Eva1 E.Morava@cukz.umcn.nl, Guillard, Maïlys2, Lefeber, Dirk J.2, Wevers, Ron A.2
Publikováno v: European Journal of Human Genetics. May2010, Vol. 18 Issue 5, p526-526. 1p.
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9
Akademický článek
Orthopedic manifestations in patients with muco-polysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey.
Autor: Link, Bianca1 bianca.link@t-online.de, de Camargo Pinto, Louise Lapagesse2, Giugliani, Roberto2, Wraith, James Edmond3, Guffon, Nathalie4, Eich, Elke1, Beck, Michael1
Publikováno v: Orthopedic Reviews. 2010, Vol. 2 Issue 2, p56-64. 9p. 1 Color Photograph, 1 Black and White Photograph, 8 Charts, 1 Graph.
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