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Depósito Digital de Documentos de la UAB Encontrados 2 registros  La búsqueda tardó 0.02 segundos. 
1.
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  
Registro completo - Creative Commons
2.
9 p, 667.5 KB Setting the stage for a role of the postsynaptic proteome in inherited neurometabolic disorders / Bayés, Àlex (Institut d'Investigació Biomèdica Sant Pau) ; Universitat Autònoma de Barcelona
Neurotransmitter diseases are a well-defined group of metabolic conditions caused, in most instances, by genes specifically expressed in the presynaptic button. Better understanding of presynaptic molecular physiology, both in normal and pathological conditions, should help develop therapeutical strategies. [...]
2018 - 10.1007/s10545-018-0240-x
Journal of Inherited Metabolic Disease, Vol. 41 (august 2018) , p. 1093-1101  
Registro completo - Creative Commons

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