Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Cazorla, Angeles Garcia"'
Autor:
Poggio, Elena, Barazzuol, Lucia, Salmaso, Andrea, Milani, Celeste, Deligiannopoulou, Adamantia, Cazorla, Ángeles García, Jang, Se Song, Juliá-Palacios, Natalia, Keren, Boris, Kopajtich, Robert, Lynch, Sally Ann, Mignot, Cyril, Moorwood, Catherine, Neuhofer, Christiane, Nigro, Vincenzo, Oostra, Anna, Prokisch, Holger, Saillour, Virginie, Schuermans, Nika, Torella, Annalaura, Verloo, Patrick, Yazbeck, Elise, Zollino, Marcella, Jech, Robert, Winkelmann, Juliane, Necpal, Jan, Calì, Tito, Brini, Marisa, Zech, Michael
Publikováno v:
In Genetics in Medicine December 2023 25(12)
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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Autor:
Mochel, Fanny, Gras, Domitille, Luton, Marie-Pierre, Nizou, Manon, Giovannini, Donatella, Delattre, Caroline, Aubart, Mélodie, Barth, Magalie, De Saint-Martin, Anne, Doummar, Diane, Essid, Nouha, Garros, Alexa, Le Camus, Caroline Hachon, Hoebeke, Celia, The Tich, Sylvie Nguyen, Perivier, Maximilien, Rivera, Serge, Rolland, Anne, Roubertie, Agathe, Sarret, Catherine, Sevin, Caroline, Ville, Dorothee, Sitbon, Marc, Costa, Jean-Marc, Pons, Roser, Garcia-Cazorla, Angels, Vuillaumier, Sandrine, Petit, Vincent, Boespflug-Tanguy, Odile, De Vivo, Darryl C., Mochel, Fanny, Gras, Domitille, Luton, Marie-Pierre, Nizou, Manon, Giovannini, Donatella, Delattre, Caroline, Aubart, Mélodie, Barth, Magalie, De Saint- Martin, Anne, Doummar, Diane, Essid, Nouha, Garros, Alexa, Hachon-Le Camus, Caroline, Hoebeke, Célia, The Tich, Sylvie Nguyen, Périvier, Maximilien, Rivera, Serge, Rolland, Anne, Roubertie, Agathe, Sarret, Catherine, Sevin, Caroline, Ville, Dorothée, Sitbon, Marc, Costa, Jean-Marc, Pons, Roser, Cazorla, Angeles Garcia-, Vuillaumier-Barrot, Sandrine, Petit, Vincent, Tanguy, Odile Boespflug-, De Vivo, Darryl C
Publikováno v:
Neurology (Ovid); June 2023, Vol. 100 Issue: 23 pe2360-e2373, 14p
Autor:
Galosi, Serena, Danti, Federica Rachele, Nardecchia, Francesca, Gigliotti, Federica, Alfonsi, Chiara, Martinelli, Diego, Zorzi, Giovanna, Cazorla, Angeles Garcia, Nardocci, Nardo, Leuzzi, Vincenzo, Ghezzi, Daniele
Publikováno v:
In Journal of the Neurological Sciences October 2021 429 Supplement
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Kölker, Stefan, Valayannopoulos, Vassili, Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R., Blasco-Alonso, Javier, Boy, S. P. Nikolas, Rasmussen, Marlene Bøgehus, Burgard, Peter, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, Cortès I Saladelafont, Elisenda, Couce, Maria L., de Meirleir, Linda, Dobbelaere, Dries, Furlan, Francesca, Gleich, Florian, González, Maria Julieta, Gradowska, Wanda, Grünewald, Stephanie, Honzik, Tomas, Hörster, Friederike, Ioannou, Hariklea, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, Murphy, Elaine, de Baulny, Hélène Ogier, Ortez, Carlos, Pedrón, Consuelo C., Pintos-Morell, Guillem, Pena-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Summar, Marshall L., Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H., Williams, Monique, Lund, Allan M., Cazorla, Angeles Garcia
Publikováno v:
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Journal of inherited metabolic disease, 38(6), 1157-1158. Springer Netherlands
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Journal of inherited metabolic disease, 38(6), 1157-1158. Springer Netherlands
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::62f52ab3d5c14f153cd7d9572a2a801a
Wiley Online Library
Wiley Online Library
Autor:
Kölker, Stefan, Cazorla, Angeles Garcia, Valayannopoulos, Vassili, Lund, Allan M., Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Augoustides-Savvopoulou, Persephone, Aksglaede, Lise, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R., Blasco-Alonso, Javier, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, I Saladelafont, Elisenda Cortès, Couce, Maria L., de Meirleir, Linda, Dobbelaere, Dries, Dvorakova, Veronika, Furlan, Francesca, Gleich, Florian, Gradowska, Wanda, Grünewald, Stephanie, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Lachmann, Robin, Laemmle, Alexander, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, de Baulny, Hélène Ogier, Ortez, Carlos, Peña-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Staufner, Christian, Summar, Marshall L., Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H., Williams, Monique, Burgard, Peter
Publikováno v:
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of inherited metabolic disease, 38(6), 1155-1156. Springer Netherlands
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of inherited metabolic disease, 38(6), 1155-1156. Springer Netherlands
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0604a5d50a186fa49f096577f36c86ec
https://link.springer.com/article/10.1007/s10545-015-9867-z
https://link.springer.com/article/10.1007/s10545-015-9867-z
Autor:
Kölker S; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany. Stefan.Koelker@med.uni-heidelberg.de., Cazorla AG; Servicio de Neurologia and CIBERER, ISCIII, Hospital San Joan de Deu, Barcelona, Spain., Valayannopoulos V; Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Reference Center for Inherited Metabolic Disease, Necker-Enfants Malades University Hospital and IMAGINE Institute, Paris, France., Lund AM; Centre for Inherited Metabolic Diseases, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Burlina AB; U.O.C. Malattie Metaboliche Ereditarie, Azienda Ospedaliera di Padova, Padova, Italy., Sykut-Cegielska J; Screening Department, Institute of Mother and Child, Warsaw, Poland., Wijburg FA; Department of Pediatrics, Academisch Medisch Centrum, Amsterdam, Netherlands., Teles EL; Unidade de Doenças Metabólicas, Serviço de Pediatria, Hospital de S. João, EPE, Porto, Portugal., Zeman J; First Faculty of Medicine, Charles University and General University of Prague, Prague, Czech Republic., Dionisi-Vici C; U.O.C. Patologia Metabolica, Ospedale Pediatrico Bambino Gésu, Rome, Italy., Barić I; School of Medicine, University Hospital Center Zagreb and University of Zagreb, Zagreb, Croatia., Karall D; Clinic for Pediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria., Augoustides-Savvopoulou P; 1st Pediatric Department, Metabolic Laboratory, General Hospital of Thessaloniki 'Hippocration', Thessaloniki, Greece., Aksglaede L; Centre for Inherited Metabolic Diseases, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Arnoux JB; Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Reference Center for Inherited Metabolic Disease, Necker-Enfants Malades University Hospital and IMAGINE Institute, Paris, France., Avram P; Institute of Mother and Child Care 'Alfred Rusescu', Bucharest, Romania., Baumgartner MR; Division of Metabolism and Children's Research Centre, University Children's Hospital Zurich, Steinwiesstraße 75, CH-8032, Zurich, Switzerland., Blasco-Alonso J; Hospital Materno-Infantil (HRU Carlos Haya), Málaga, Spain., Chabrol B; Centre de Référence des Maladies Héréditaires du Métabolisme, Service de Neurologie, Hôpital d'Enfants, CHU Timone, Marseilles, France., Chakrapani A; Birmingham Children's Hospital NHS Foundation Trust, Steelhouse Lane, Birmingham, B4 6NH, UK., Chapman K; Children's National Medical Center, 111 Michigan Avenue, N.W., Washington, DC, 20010, USA., I Saladelafont EC; Servicio de Neurologia and CIBERER, ISCIII, Hospital San Joan de Deu, Barcelona, Spain., Couce ML; Metabolic Unit, Department of Pediatrics, Hospital Clinico Universitario de Santiago de Compostela, Santiago de Compostela, Spain., de Meirleir L; University Hospital Vrije Universiteit Brussel, Bruxelles, Belgium., Dobbelaere D; Centre de Référence des Maladies Héréditaires du Métabolisme de l'Enfant et de l'Adulte, Hôpital Jeanne de Flandre, Lille, France., Dvorakova V; First Faculty of Medicine, Charles University and General University of Prague, Prague, Czech Republic., Furlan F; U.O.C. Malattie Metaboliche Ereditarie, Azienda Ospedaliera di Padova, Padova, Italy., Gleich F; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany., Gradowska W; Department of Laboratory Diagnostics, The Children's Memorial Health Institute, Warsaw, Poland., Grünewald S; Metabolic Unit Great Ormond Street Hospital and Institute for Child Health, University College London, London, UK., Jalan A; N.I.R.M.A.N., Om Rachna Society, Vashi, Navi Mumbai, Mumbai, India., Häberle J; Division of Metabolism and Children's Research Centre, University Children's Hospital Zurich, Steinwiesstraße 75, CH-8032, Zurich, Switzerland., Haege G; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany., Lachmann R; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK., Laemmle A; Division of Metabolism and Children's Research Centre, University Children's Hospital Zurich, Steinwiesstraße 75, CH-8032, Zurich, Switzerland., Langereis E; Department of Pediatrics, Academisch Medisch Centrum, Amsterdam, Netherlands., de Lonlay P; Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Reference Center for Inherited Metabolic Disease, Necker-Enfants Malades University Hospital and IMAGINE Institute, Paris, France., Martinelli D; U.O.C. Patologia Metabolica, Ospedale Pediatrico Bambino Gésu, Rome, Italy., Matsumoto S; Department of Pediatrics, Kumamoto University Hospital, Kumamoto City, Japan., Mühlhausen C; Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany., de Baulny HO; Hôpital Robert Debré, Université de Paris, Paris, France., Ortez C; Servicio de Neurologia and CIBERER, ISCIII, Hospital San Joan de Deu, Barcelona, Spain., Peña-Quintana L; Hospital Universitario Materno-Infantil de Canarias, Unit of Pediatric Gastroenterology, Hepatology and Nutrition, University of Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Spain., Ramadža DP; University Hospital Center Zagreb, Zagreb, Croatia., Rodrigues E; Unidade de Doenças Metabólicas, Serviço de Pediatria, Hospital de S. João, EPE, Porto, Portugal., Scholl-Bürgi S; Clinic for Pediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria., Sokal E; Service Gastroentérologie and Hépatologie Pédiatrique, Cliniques Universitaires St Luc, Université Catholique de Louvain, Bruxelles, Belgium., Staufner C; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany., Summar ML; Children's National Medical Center, 111 Michigan Avenue, N.W., Washington, DC, 20010, USA., Thompson N; Metabolic Unit Great Ormond Street Hospital and Institute for Child Health, University College London, London, UK., Vara R; Evelina Children's Hospital, St Thomas' Hospital, London, UK., Pinera IV; Inborn Metabolic Disease Unit, Hospital Virgen de la Arrixaca de Murcia, El Palmar, Spain., Walter JH; Manchester Academic Health Science Centre, Willink Biochemical Genetics Unit, Genetic Medicine, University of Manchester, Manchester, UK., Williams M; Erasmus MC-Sophia Kinderziekenhuis, Erasmus Universiteit Rotterdam, Rotterdam, Netherlands., Burgard P; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2015 Nov; Vol. 38 (6), pp. 1155-6.