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Artículos, Encontrados 5 registros
Artículos Encontrados 5 registros  
1.
16 p, 860.4 KB Fabry Disease and Central Nervous System Involvement : From Big to Small, from Brain to Synapse / Cortès-Saladelafont, Elisenda (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Fernández-Martín, Julián (Complexo Hospitalario Universitario de Vigo) ; Ortolano, Saida (Instituto de Investigación Sanitaria Galicia Sur) ; Universitat Autònoma de Barcelona
Fabry disease (FD) is an X-linked lysosomal storage disorder (LSD) secondary to mutations in the GLA gene that causes dysfunctional activity of lysosomal hydrolase α-galactosidase A and results in the accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3). [...]
2023 - 10.3390/ijms24065246
International journal of molecular sciences, Vol. 24 (march 2023)  
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2.
8 p, 1.3 MB Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases / Rovira-Remisa, M. Mar (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Moreira, Mónica (Universitat Autònoma de Barcelona) ; Ventura-Wichner, Paula S (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Gonzalez-Alvarez, Pablo (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Mestres, Núria (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Graterol Torres, Fredzzia (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Joaquín, Clara (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Rodríguez-Palmero, Agustí (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Martínez-Colls, Maria del Mar (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Roche, Ana (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Ibáñez-Micó, Salvador (Hospital Universitario Virgen de la Arrixaca (Múrcia)) ; López-Laso, Eduardo (Instituto Maimónides de Investigación Biomédica de Córdoba) ; Méndez-Hernández, María Jesús (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Murillo-Vallés, Marta (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Monlleó-Neila, Laura (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Maqueda-Castellote, Elena (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Del Toro, Mireia (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Felipe-Rucián, Ana (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Giralt López, Maria (Universitat Autònoma de Barcelona) ; Cortès-Saladelafont, Elisenda (Universitat Autònoma de Barcelona)
The Covid-19 pandemic soon became an international health emergency raising concern about its impact not only on physical health but also on quality of life and mental health. Rare diseases are chronically debilitating conditions with challenging patient care needs. [...]
2023 - 10.1016/j.ymgmr.2023.100962
Molecular Genetics and Metabolism Reports, Vol. 35 (march 2023) , p. 100962  
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3.
12 p, 2.6 MB Impact of the -2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the consortium / Mütze, Ulrike (Heidelberg University Hospital (Alemanya)) ; Gleich, Florian (Heidelberg University Hospital (Alemanya)) ; Barić, Ivo (University Hospital Center Zagreb) ; Baumgartner, Mathias (University Children's Hospital and Children's Research Center) ; Burlina, Alberto (University Hospital Padova) ; Chapman, Kimberly A. (Children's National Medical Center) ; Chien, Yin-Hsiu (National Taiwan University Hospital (Taiwan)) ; Cortès-Saladelafont, Elisenda (Universitat Autònoma de Barcelona) ; De Laet, Corinne (Hôpital Universitaire des Enfants Reine Fabiola-Université Libre de Bruxelles) ; Dobbelaere, Dries (Jeanne de Flandre University Hospital and RADEME Research Team for Rare Metabolic and Developmental Diseases) ; Eysken, Francois (University Hospital of Antwerp UZA) ; Gautschi, Matthias (University Hospital Bern) ; Santer, Rene (University Children's Hospital, University Medical Centre Hamburg-Eppendorf) ; Häberle, Johannes (University Children's Hospital and Children's Research Center, University of Zurich) ; Joaquín, Clara (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Karall, Daniela (Medical University of Innsbruck) ; Lindner, Martin (Goethe University Frankfurt/Main, Uni.-Children's Hospital) ; Lund, Allan M. (Copenhagen University Hospital) ; Mühlhausen, Chris (Universitätsmedizin Göttingen) ; Murphy, Elaine (National Hospital for Neurology and Neurosurgery) ; Roland, Dominique (Institute of Pathology and Human Genetics (Bèlgica)) ; Ruiz Gomez, Angeles (Hospital Universitari Son Espases (Palma de Mallorca, Balears)) ; Skouma, Anastasia (Institouto Ygeias Tou Paidiou (Grècia)) ; Grünert, Sarah C. (University of Freiburg) ; Wagenmakers, Margreet (Erasmus Medical Center) ; Garbade, Sven F. (Heidelberg University Hospital (Alemanya)) ; Kölker, Stefan (Heidelberg University Hospital (Alemanya)) ; Boy, Nikolas (Heidelberg University Hospital (Alemanya))
The SARS-CoV-2 pandemic challenges healthcare systems worldwide. Within inherited metabolic disorders (IMDs) the vulnerable subgroup of intoxication-type IMDs such as organic acidurias (OA) and urea cycle disorders (UCD) show risk for infection-induced morbidity and mortality. [...]
2022 - 10.1002/jimd.12572
Journal of Inherited Metabolic Disease, november 2022  
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4.
5 p, 885.6 KB Correction to : Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies / Opladen, Thomas (University Children's Hospital (Alemanya)) ; López-Laso, Eduardo (Hospital Universitario Reina Sofía (Córdoba, Espanya)) ; Cortès-Saladelafont, Elisenda (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Pearson, Toni S. (Washington University School of Medicine. Department of Neurology) ; Sivri, H. Serap (Hacettepe University) ; Yildiz, Yilmaz (Hacettepe University) ; Assmann, Birgit (University Children's Hospital) ; Kurian, Manju A. (Great Ormond Street Hospital for Children (Londres)) ; Leuzzi, Vincenzo (Sapienza University of Rome. Unit of Child Neurology and Psychiatry, Department of Human Neuroscience) ; Heales, Simon (National Hospital (Regne Unit)) ; Pope, Simon (National Hospital (Regne Unit)) ; Porta, Francesco (AOU Città della Salute e della Scienza. Department of Pediatrics (Itàlia)) ; García-Cazorla, Angels (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Honzík, Tomáš (Charles University) ; Pons, Roser (Aghia Sofia Hospital) ; Regal, Luc (Pediatric Neurology and Metabolism Unit (Bèlgica)) ; Goez, Helly (University of Alberta Glenrose Rehabilitation Hospital. Department of Pediatrics) ; Artuch, R. (Institut de Recerca Sant Joan de Déu) ; Hoffmann, Georg F. (University Children's Hospital. Division of Child Neurology and Metabolic Disorders) ; Horvath, Gabriella (University of British Columbia. Department of Pediatrics, Division of Biochemical Genetics) ; Thöny, Beat (University Children's Hospital Zurich) ; Scholl-Bürgi, Sabine (Medical University of Innsbruck) ; Burlina, Alberto (Azienda Ospedaliera Universitaria di Padova) ; Verbeek, Marcel M. (Radboud University Medical Centre. Departments of Neurology and Laboratory Medicine) ; Mastrangelo, Mario (Sapienza University of Rome) ; Friedman, Jennifer (Rady Children's Institute for Genomic Medicine) ; Wassenberg, Tessa (Pediatric Neurology and Metabolism Unit (Bèlgica)) ; Jeltsch, Kathrin (University Children's Hospital) ; Kulhánek, Jan (Charles University) ; Kuseyri Hübschmann, Oya (University Children's Hospital) ; Universitat Autònoma de Barcelona
2020 - 10.1186/s13023-020-01464-y
Orphanet Journal of Rare Diseases, Vol. 15 (august 2020)  
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5.
30 p, 1.7 MB Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH) deficiencies / Opladen, Thomas (University Children's Hospital. Division of Child Neurology and Metabolic Disorders) ; López-Laso, Eduardo (Hospital Universitario Reina Sofía (Còrdova, Espanya)) ; Cortès-Saladelafont, Elisenda (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Pearson, Toni S. (Washington University School of Medicine. Department of Neurology) ; Sivri, H. Serap (Hacettepe University, Faculty of Medicine. Department of Pediatrics, Section of Metabolism) ; Yildiz, Yilmaz (Hacettepe University, Faculty of Medicine. Department of Pediatrics, Section of Metabolism) ; Assmann, Birgit (University Children's Hospital. Division of Child Neurology and Metabolic Disorders) ; Kurian, Manju A. (Great Ormond Street Hospital for Children (Londres)) ; Leuzzi, Vincenzo (Sapienza University of Rome. Unit of Child Neurology and Psychiatry, Department of Human Neuroscience) ; Heales, Simon (National Hospital. Neurometabolic Unit) ; Pope, Simon (National Hospital. Neurometabolic Unit) ; Porta, Francesco (AOU Città della Salute e della Scienza. Department of Pediatrics) ; García-Cazorla, Angels (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Honzík, Tomáš (Charles University. Faculty of Medicine in Hradec Králové) ; Pons, Roser (Aghia Sofia Hospital. First Department of Pediatrics of the University of Athens) ; Regal, Luc (UZ Brussel. Department of Pediatric, Pediatric Neurology and Metabolism Unit) ; Goez, Helly (University of Alberta Glenrose Rehabilitation Hospital. Department of Pediatrics) ; Artuch, R. (Institut de Recerca Sant Joan de Déu) ; Hoffmann, Georg F. (University Children's Hospital. Division of Child Neurology and Metabolic Disorders) ; Horvath, Gabriella (University of British Columbia. Department of Pediatrics, Division of Biochemical Genetics, BC Children's Hospital) ; Thöny, Beat (University Children's Hospital Zurich. Division of Metabolism) ; Scholl-Bürgi, Sabine (Medical University of Innsbruck. Clinic for Pediatrics I) ; Burlina, Alberto (Azienda Ospedaliera Universitaria di Padova) ; Verbeek, Marcel M. (Radboud University Medical Centre. Departments of Neurology and Laboratory Medicine) ; Mastrangelo, Mario (Sapienza University of Rome. Unit of Child Neurology and Psychiatry, Department of Human Neuroscience) ; Friedman, Jennifer (Rady Children's Hospital Division of Neurology; Rady Children's Institute for Genomic Medicine. UCSD Departments of Neuroscience and Pediatrics) ; Wassenberg, Tessa (UZ Brussel. Department of Pediatric, Pediatric Neurology and Metabolism Unit) ; Jeltsch, Kathrin (University Children's Hospital. Division of Child Neurology and Metabolic Disorders) ; Kulhánek, Jan (Charles University. Faculty of Medicine in Hradec Králové) ; Kuseyri Hübschmann, Oya (University Children's Hospital. Division of Child Neurology and Metabolic Disorders) ; Universitat Autònoma de Barcelona
Tetrahydrobiopterin (BH) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis of the monoamine neurotransmitters dopamine and serotonin due to a disturbance of BH biosynthesis or recycling. [...]
2020 - 10.1186/s13023-020-01379-8
Orphanet Journal of Rare Diseases, Vol. 15 (may 2020)  
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