|
1.
|
|
11 p, 1.1 MB |
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
/
Töpf, Ana (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Johnson, Katherine (Newcastle University) ;
Bates, Adam (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Phillips, Lauren (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Chao, Katherine R. (Broad Institute of MIT and Harvard) ;
England, Eleina M. (Broad Institute of MIT and Harvard) ;
Laricchia, KristenM. (Broad Institute of MIT and Harvard) ;
Mullen, Thomas (Broad Institute of MIT and Harvard) ;
Valkanas, Elise (Broad Institute of MIT and Harvard) ;
Xu, Liwen (Broad Institute of MIT and Harvard) ;
Bertoli, Marta (Newcastle upon Tyne NHS Foundation Trust) ;
Blain, Alison (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Casasús, Ana B. (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Duff, Jennifer (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Mroczek, Magdalena (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Specht, Sabine (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Lek, Monkol (Yale University School of Medicine) ;
Ensini, Monica (Directorate E. Unit E2 Combatting Diseases) ;
MacArthur, Daniel G. (Murdoch Children's Research Institute) ;
Akay, Ela (Newcastle upon Tyne Hospitals NHS Foundation Trust) ;
Alonso-Pérez, Jorge (Institut d'Investigació Biomèdica Sant Pau) ;
Baets, Jonathan (University of Antwerp) ;
Barisic, Nina (Zagreb Medical School) ;
Bastian, Alexandra (University of Medicine and Pharmacy Carol Davila Bucharest) ;
Borell, Sabine (University of Freiburg) ;
Chamova, Teodora (Alexandrovska Medical University) ;
Claeys, Kristl (KU Leuven) ;
Colomer, Jaume (Hospital Sant Joan de Deu) ;
Coppens, Sandra (Université Libre de Bruxelles) ;
Deconinck, Nicolas (Hôpital Universitaire des Enfants Reine Fabiola (HUDERF)) ;
de Ridder, Willem (University of Antwerp) ;
Diaz-Manera, Jordi (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Domínguez-González, C (Instituto de Investigación Hospital 12 de Octubre Centro de Actividades Ambulatorias) ;
Duncan, Alexis (Queen Elizabeth University Hospital) ;
Durmus, Hacer (Istanbul Faculty of Medicine) ;
Fahmy, Nagia A. (Ain Shams University (El Caire, Egipte)) ;
Farrugia, Maria Elena (Queen Elizabeth University Hospital) ;
Fernández-Torrón, Roberto (Instituto de Salud Carlos III) ;
Gonzalez-Quereda, L (Institut d'Investigació Biomèdica Sant Pau) ;
Haberlova, Jana (Charles University) ;
von der Hagen, Maja (Technische Universitat Dresden) ;
Hahn, Andreas (Justus-Liebig-University Giessen) ;
Jakovčević, Antonia (School of Medicine Zagreb) ;
Jerico Pascual, Ivonne (Complejo Hospitalario de Navarra) ;
Kapetanovic, Solange (Hospital de Basurto (Bilbao, Biscaia)) ;
Kenina, Viktorija (Riga East University Hospital) ;
Kirschner, Janbernd (University of Freiburg) ;
Klein, Andrea (Inselspital Bern) ;
Kölbel, Heike (University of Duisburg) ;
Kostera-Pruszczyk, Anna (Medical University of Warsaw) ;
Kulshrestha, Richa (RJAH Orthopaedic Hospital NHS Foundation Trust) ;
Lähdetie, Jaana (University of Turku and Turku University Central Hospital) ;
Layegh, Mahsa (Tehran University of Medical Sciences) ;
Longman, Cheryl (Queen Elizabeth University Hospital) ;
López de Munain, Adolfo (University of the Basque Country UPV-EHU) ;
Loscher, Wolfgang (Medical University of Innsbruck) ;
Lusakowska, Anna (Medical University of Warsaw) ;
Maddison, Paul (Nottingham University Hospitals NHS Trust (Regne Unit)) ;
Magot, Armelle (Hôtel-Dieu. University Hospital) ;
Majumdar, Anirban (Bristol Children's Hospital) ;
Martí, Pilar (Instituto de Investigación Sanitaria La Fe) ;
Martínez Arroyo, Amaia (Hospital Galdakao) ;
Mazanec, Radim (Charles University) ;
Mercier, Sandra (Hôtel-Dieu. University Hospital) ;
Mongini, Tiziana (University of Turin) ;
Muelas, Nuria (Instituto de Investigación Sanitaria La Fe) ;
Nascimento, Andrés (Hospital Sant Joan de Deu) ;
Nafissi, Shahriar (Tehran University of Medical Sciences) ;
Omidi, Shirin (Tehran University of Medical Sciences) ;
Ortez González, Carlos Ignacio (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Paquay, Stéphanie (Université de Louvain) ;
Pereon, Yann (Hôtel-Dieu. University Hospital) ;
Perić, Stojan (Clinical Center of Serbia) ;
Ponzalino, Valentina (University of Turin) ;
Rakočević Stojanović, Vidosava (Clinical Center of Serbia) ;
Remiche, Gauthier (Université Libre de Bruxelles) ;
Rodríguez Sainz, Aida (Hospital Galdakao) ;
Rudnik, Sabine (Medical University Innsbruck) ;
Sanchez Albisua, Iciar (University of Tübingen) ;
Santos, Manuela (Centro Hospitalar Universitário Porto) ;
Schara, Ulrike (University of Duisburg) ;
Shatillo, Andriy (Psychiatry and Narcology of NAMS of Ukraine) ;
Sertić, Jadranka (Zagreb Medical School) ;
Stephani, Ulrich (University Medical Center Schleswig-Holstein) ;
Strang-Karlsson, Sonja (Helsinki University Hospital) ;
Sznajer, Yves (Université de Louvain) ;
Tanev, Ani (Alexandrovska Medical University) ;
Tournev, Ivailo (New Bulgarian University) ;
Van den Bergh, Peter (Université de Louvain) ;
Van Parijs, Vinciane (Université de Louvain) ;
Vílchez, Juan (Instituto de Investigación Sanitaria La Fe) ;
Vill, Katharina (Dr. v. Hauner Children's Hospital) ;
Vissing, John (University of Copenhagen) ;
Wallgren-Pettersson, Carina (University of Helsinki) ;
Wanschitz, Julia (Medical University of Innsbruck) ;
Willis, Tracey (RJAH Orthopaedic Hospital NHS Foundation Trust) ;
Witting, Nanna (University of Copenhagen) ;
Zulaica, Miren (Hospital de Donostia (Sant Sebastià, País Basc)) ;
Straub, Volker (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Universitat Autònoma de Barcelona
Several hundred genetic muscle diseases have been described, all of which are rare. Their clinical and genetic heterogeneity means that a genetic diagnosis is challenging. We established an international consortium, MYO-SEQ, to aid the work-ups of muscle disease patients and to better understand disease etiology. [...]
2020 -  10.1038/s41436-020-0840-3
Genetics in medicine, Vol. 22 Núm. 9 (january 2020) , p. 1478-1488
|
|
|
2.
|
|
17 p, 1.5 MB |
A Phase II Study to Evaluate the Safety and Efficacy of Prasinezumab in Early Parkinson's Disease (PASADENA) : Rationale, Design, and Baseline Data
/
Pagano, Gennaro (F Hoffmann-La Roche AG Research and Development Division) ;
Boess, Frank (Roche Pharma Research and Early Development) ;
Taylor, Kirsten I. (Faculty of Psychology. University of Basel) ;
Ricci, Benedicte (Roche Pharma Research and Early Development) ;
Mollenhauer, Brit ;
Poewe, Werner ;
Boulay, Anne ;
Anzures-Cabrera, Judith (Roche Products Ltd) ;
Vogt, Annamarie ;
Marchesi, Maddalena ;
Post, Anke ;
Nikolcheva, Tania ;
Kinney, Gene G. (Prothena Biosciences Inc. South San Francisco) ;
Zago, Wagner M. ;
Ness, Daniel K. ;
Svoboda, Hanno (F. Hoffmann-La Roche) ;
Britschgi, Markus ;
Ostrowitzki, Susanne ;
Simuni, Tanya ;
Marek, Kenneth (Institute for Neurodegenerative Disorders) ;
Koller, Martin ;
Sevigny, Jeff ;
Doody, Rachelle ;
Fontoura, Paulo ;
Umbricht, Daniel ;
Bonni, Azad ;
Altendorf, Claudia ;
Anandan, Chareyna ;
Andrews, Giulia ;
Ansquer, Solène ;
Arrouasse, Raphaele ;
Aslam, Sana ;
Azulay, Jean-Philippe ;
Baker, Jeanette ;
Balaguer Martinez, Ernest ;
Barbu, Shadi ;
Bardram, Kara ;
Bega, Danny ;
Bejr-kasem, Helena (Institut d'Investigació Biomèdica Sant Pau) ;
Benatru, Isabelle ;
Benchetrit, Eve ;
Bernhard, Felix ;
Besharat, Amir ;
Bette, Sagari ;
Bichon, Amelie ;
Billnitzer, Andrew ;
Blondeau, Sophie ;
Boraud, Thomas ;
Borngräber, Freiderike ;
Boyd, James ;
Brockmann, Kathrin ;
Brodsky, Matthew ;
Brown, Ethan ;
Bruecke, Christof ;
Calvas, Fabienne ;
Canelo, Monica ;
Carbone, Federico ;
Carroll, Claire ;
Casado Fernandez, Laura ;
Cassé-Perrot, Catherine ;
Castrioto, Anna ;
Catala, Helene ;
Chan, Justine ;
Cheriet, Samia ;
Ciabarra, Aanthony ;
Classen, Joseph ;
Coleman, Juliana ;
Coleman, Robert ;
Compta, Yaroslau ;
Corbillé, Anne-Gaëlle ;
Corvol, Jean-Christophe ;
Cosgaya, Marina ;
Dahodwala, Nabila ;
Damier, Philippe ;
David, Elodie ;
Davis, Thomas ;
Dean, Marissa ;
Debilly, Berengere ;
DeGiorgio, Janell ;
Deik, Andres ;
Delaby, Laure ;
Delfini, Marie-Helene ;
Derkinderen, Pascal ;
Derost, Philipp ;
de Toledo, María ;
Deuel, Lisa ;
Diaz-Hernandez, Ann Marie ;
Dietiker, Cameron ;
Dimenshteyn, Karina ;
Dotor, Julio ;
Durif, Franck ;
Ebentheuer, Jens ;
Eggert, Karla Maria ;
Eichau Madueño, Sara ;
Eickhoff, Claudia ;
Ellenbogen, Aaron ;
Ellmerer, Philipp ;
Esparragosa Vazquez, Inés ;
Eusebio, Alexandre ;
Ewert, Siobhan ;
Fang, John ;
Feigenbaum, Danielle ;
Fluchere, Frederique ;
Foubert-Samier, Alexandra ;
Fournier, Marie ;
Fradet, Anne ;
Fraix, Valerie ;
Frank, Samuel ;
Fries, Franca ;
Galitzky, Monique ;
Gallardo Pérez, Marisol ;
Moreno, Jose Manuel García ;
Gasca, Carmen ;
Gasser, Thomas ;
Gibbons, Joyce ;
Giordana, Caroline ;
González Martinez, Alicia ;
Goodman, Ira ;
Gorospe, Arantza ;
Goubeaud, Marie ;
Grabli, David ;
Graziella, Mangone ;
Grimaldi, Stephan ;
Gross, Jeffrey ;
Guimaraes-Costa, Raquel ;
Hartmann, Andreas ;
Hartmann, Christian ;
Hassell, Travis ;
Hauser, Robert ;
Hernandez, Antonio ;
Hernández-Vara, Jorge ;
Hoeglinger, Günter ;
Homedes, Christian ;
Horta, Andrea ;
Houeto, Jean-Luc ;
Huebl, Julius ;
Hui, Jennifer ;
Isaacson, Stuart ;
Jankovic, Joseph ;
Janzen, Annette ;
Jauregui, Junior ;
Jiao, Jocelyne ;
Martí Domenech, María José ;
Joseph, Xavier ;
Kadimi, Srinath ;
Kaminski, Pat ;
Kannenberg, Silja ;
Kassubek, Jan ;
Katz, Maya ;
Klos, Kevin ;
Klos, Shannon ;
Kobet, Christopher ;
Koebert, Jennifer ;
Krause, Patricia ;
Kuehn, Andrea ;
Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ;
Kumar, Rajeev ;
Kunz, Martin ;
Kurvits, Lille ;
Kwei, Kimberly ;
Laganiere, Simon ;
Laurens, Brice ;
Levin, Johannes ;
Levy, Oren ;
LeWitt, Peter ;
Cristóbal, Gurutz Linazasoro ;
Litvan, Irene ;
Lizarraga, Karlo ;
Longardner, Katherine ;
Lopez, Rocío ;
López Manzanares, Lydia ;
Lucas del Pozo, Sara ;
Luquín Pulido, María Rosario ;
Luthra, Nijee ;
Lyons, Kelly ;
Maass, Sylvia ;
Machetanz, Gerrit ;
Macías, Yolanda ;
Maltete, David ;
Manez Miro, Jorge Uriel ;
Mariani, Louise-Laure ;
Marin, Juan ;
Marini, Kathrin ;
Marques, Ana ;
Marti, Gloria ;
Martí Domenech, María José ;
Martinez, Saul ;
Meissner, Wassilios ;
Meoni, Sara ;
Mollenhauer, Brit ;
Martinez, Dunia Mon ;
Moon, Johnson ;
Moro, Elena ;
Morrison, Peter ;
Muehlberg, Christoph ;
Multani, Manpreet ;
Murphy, Christine ;
Nicholas, Anthony ;
Pahwa, Rajesh ;
Palasí Franco, Antoni ;
Pape, Heidi ;
Patel, Neepa ;
Patel, Prity ;
Peball, Marina ;
Peckham, Elizabeth ;
Peery, Terry ;
Perez, Rafael ;
Perez, Jesús ;
Petit, Alisa ;
Pinkhardt, Elmar ;
Poewe, Werner ;
Pomies, Elsa ;
Preterre, Cecile ;
Quinn, Joseph ;
Rascol, Olivier ;
Remy, Philippe ;
Richard, Irene ;
Roeben, Benjamin ;
Ruether, Emily ;
Rumpf, Jost-Julian ;
Russell, David ;
Salhi, Hayet ;
Samaniego-Toro, Daniela ;
Samier-Foubert, Alexandra ;
Sánchez, Antonio ;
Schmitt, Emmanuelle ;
Schnitzler, Alfons ;
Schorr, Oliver ;
Schwartzbard, Julie ;
Schweyer, Kerstin ;
Seppi, Klaus ;
Sergo, Victoria ;
Shill, Holly ;
Siderowf, Andrew ;
Simuni, Tanya ;
Spampinato, Umberto ;
Sriram, Ashok ;
Stover, Natividad ;
Tanner, Caroline ;
Tarakad, Arjun ;
Taylor, Carolyn ;
Thalamus, Claire ;
Toothaker, Thomas ;
Van Blercom, Nadege ;
Vanegas-Arrogave, Nora ;
Vela, Lydia ;
Vergnet, Sylvian ;
Vidal, Tiphaine ;
Vöglein, Jonathan ;
Walsh, Ryan ;
Waters, Cheryl ;
Wegscheider, Mirko ;
Weidinger, Endy ;
Weill, Caroline ;
Wenzel, Gregor ;
Witjas, Tatiana ;
Wurster, Isabel ;
Wright, Brenton ;
Zimmermann, Milan ;
Zuzuarregui, Rafael ;
Abt, Markus ;
Bamdadian, Atieh ;
Barata, Teresa ;
Barbet, Nicholas ;
Belli, Sara ;
Boess, Frank ;
Bonni, Azad ;
Borroni, Edilio ;
Boulay, Anne ;
Britschgi, Markus ;
Chague, Jerome ;
Cosson, Valerie ;
Czech, Christian ;
Deptula, Dennis ;
Diack, Cheikh ;
Doody, Rachelle ;
Dukart, Juergen ;
D'Urso, Giulia ;
Dziadek, Sebastian (F. Hoffmann-La Roche) ;
Eddleston, Hannah ;
Edgar, Chris ;
Essioux, Laurent ;
Farell, Morgan ;
Finch, Rebecca (Roche Products Ltd) ;
Fontoura, Paulo ;
Gruenbauer, Waltraud ;
Hahn, Andreas ;
Holiga, Stefan (F. Hoffmann-La Roche) ;
Honer, Michael ;
Jadidi, Shirin ;
Johnson-Wood, Kelly ;
Keller, Markus ;
Kilchenmann, Timothy ;
Koller, Martin ;
Kremer, Thomas ;
Kustermann, Thomas (F. Hoffmann-La Roche) ;
Landsdall, Claire ;
Lindemann, Michael (F. Hoffmann-La Roche) ;
Lipsmeier, Florian ;
Luzy, Cecile ;
Manchester, Marianne ;
Marchesi, Maddalena ;
Martenyi, Ferenc ;
Martin-Facklam, Meret ;
Mironova, Katerina ;
Monnet, Annabelle (F. Hoffmann-La Roche) ;
Moore, Emma ;
Ness, Daniel K. ;
Niggli, Markus ;
Nikolcheva, Tania (F. Hoffmann-La Roche) ;
Ostrowitzki, Susanne ;
Passmard, Benedicte ;
Poirier, Agnes ;
Post, Anke ;
Prasad, Megana ;
Pross, Nathalie (F. Hoffmann-La Roche) ;
Quock, Tiffany ;
Rose, Ellen ;
Sarry, Christoph ;
Schubert, Christine ;
Selkoe, Dennis ;
Sevigny, Jeff ;
Sink, Kaycee ;
Staunton, Hannah ;
Steven, Tim ;
Strasak, Alexander ;
Svoboda, Hanno ;
Tripuraneni, Radhika ;
Trundell, Dylan ;
Umbricht, Daniel ;
Verselis, Lynne ;
Vogt, Annamarie ;
Volkova-Volkmar, Ekaterina ;
Weber, Cornelia ;
Weber, Silke ;
Zago, Wagner (Prothena Biosciences Inc. (San Francisco))
Background: Currently available treatments for Parkinson's disease (PD) do not slow clinical progression nor target alpha-synuclein, a key protein associated with the disease. Objective: The study objective was to evaluate the efficacy and safety of prasinezumab, a humanized monoclonal antibody that binds aggregated alpha-synuclein, in individuals with early PD. [...]
2021 - 10.3389/fneur.2021.705407
Frontiers in neurology, Vol. 12 (january 2021) , p. 705407
|
|
|
3.
|
|
16 p, 6.7 MB |
Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism
/
Schänzer, Anne (Institute of Neuropathology, Justus-Liebig-University, Giessen, Germany) ;
Achleitner, Melanie T. (University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria) ;
Trümbach, Dietrich (Institute of Metabolism and Cell Death, Helmholtz Center, Munich, Germany) ;
Hubert, Laurence (Inserm UMR1163, Imagine Institute, Tanslational Genetics, Université de Paris, Paris, France) ;
Munnich, Arnold (Inserm UMR1163, Imagine Institute, Tanslational Genetics, Université de Paris, Paris, France) ;
Ahlemeyer, Barbara (Institute for Anatomy and Cell Biology, Division of Medical Cell Biology, Justus Liebig University, Giessen, Germany) ;
AlAbdulrahim, Maha M. (King Abdullah Bin Abdulaziz University Hospital, Riyadh, Saudi Arabia) ;
Greif, Philipp A. (Experimental Leukemia and Lymphoma Research Department of Medicine III, University Hospital, LMU Munich, Munich, Germany) ;
Vosberg, Sebastian (German Cancer Research Centre (DKFZ), Heidelberg, Germany) ;
Hummer, Blake (Molecular and Cellular Biophysics Program, Department of Biological Sciences, University of Denver, Denver, CO, USA) ;
Feichtinger, René G. (University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria) ;
Mayr, Johannes A. (University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria) ;
Wortmann, Saskia B. (Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands) ;
Aichner, Heidi (Department of Pediatrics, Academic Teaching Hospital, Landeskrankenhaus Feldkirch, Feldkirch, Austria) ;
Rudnik-Schöneborn, Sabine (Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria) ;
Ruiz, Anna (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Gabau, Elisabeth (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Pérez Sánchez, Jacobo (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Ellard, Sian (College of Medicine and Health, University of Exeter, Exeter, UK) ;
Homfray, Tessa (Saint George's University Hospital and Royal Brompton Hospital, London, UK) ;
Stals, Karen L. (Genomic Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK) ;
Wurst, Wolfgang (Ludwig-Maximilians-Universität München) ;
Neubauer, Bernd A. (Department of Child Neurology, Justus-Liebig-University, Giessen, Germany) ;
Acker, Till (Institute of Neuropathology, Justus-Liebig-University, Giessen, Germany) ;
Bohlander, Stefan K. (Leukaemia and Blood Cancer Research Unit, Department of Molecular Medicine and Pathology, The University of Auckland, Auckland, New Zealand) ;
Asensio, Cédric (Molecular and Cellular Biophysics Program, Department of Biological Sciences, University of Denver, Denver, CO, USA) ;
Besmond, Claude (Inserm UMR1163, Imagine Institute, Tanslational Genetics, Université de Paris, Paris, France) ;
Alkuraya, Fowzan S. (Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia) ;
AlSayed, Moenaldeen D. (King Faisal Specialist Hospital and Research Centre (Aràbia Saudita)) ;
Hahn, Andreas (Department of Child Neurology, Justus-Liebig-University, Giessen, Germany) ;
Weber, Axel (Institute of Human Genetics, Justus-Liebig- University, Giessen, Germany) ;
Universitat Autònoma de Barcelona
Precursors of peptide hormones undergo posttranslational modifications within the trans-Golgi network (TGN). Dysfunction of proteins involved at different steps of this process cause several complex syndromes affecting the central nervous system (CNS). [...]
2021 - 10.1002/ana.26127
Annals of neurology, Vol. 90 (june 2021) , p. 143-158
|
|
|
4.
|
|
9 p, 215.1 KB |
Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases : Results From the First Multi-Center European Survey
/
Stepien, Karolina M. (Adult Inherited Metabolic Diseases, Salford Royal NHS Foundation Trust) ;
Kieć-Wilk, Beata (Department of Metabolic Diseases, Medical College, Jagiellonian University) ;
Lampe, Christina (Department of Child Neurology, Center for Rare Diseases Giessen (ZSEGI), Justus-Liebig University) ;
Tangeraas, Trine (Oslo University Hospital (Oslo, Noruega)) ;
Cefalo, Graziella (Department of Maternal and Child Health, San Paolo Hospital, University of Milan, ASST Santi Paolo e Carlo) ;
Belmatoug, Nadia (Referral Center for Lysosomal Diseases, AP-HP Nord, Beaujon Hospital, Paris University) ;
Francisco, Rita (Portuguese Association for Congenital Disorders of Glycosylation and other Rare Metabolic Diseases) ;
Del Toro, Mireia (Hospital Universitari Vall d'Hebron) ;
Wagner, Leona (German-Speaking Self-Help Group for Alkaptonuria (DSAKU) e.V) ;
Lauridsen, Anne-Grethe (Gaucher Association Denmark) ;
Sestini, Sylvia (Italian Association of Patients With Alkaptonuria (aimAKU)) ;
Weinhold, Nathalie (Metabolic Unit, Interdisciplinary Centre for Metabolism: Endocrinology, Diabetes and Metabolism (UP) and Children's Hospital, Charité University Hospital Berlin) ;
Hahn, Andreas (Department of Child Neurology, Justus-Liebig University) ;
Montanari, Chiara (Department of Maternal and Child Health, San Paolo Hospital, University of Milan, ASST Santi Paolo e Carlo) ;
Rovelli, Valentina (Department of Maternal and Child Health, San Paolo Hospital, University of Milan, ASST Santi Paolo e Carlo) ;
Bellettato, Cinzia M. (MetabERN, Regional Coordinating Center for Rare Diseases, Udine University Hospital) ;
Paneghetti, Laura (MetabERN, Regional Coordinating Center for Rare Diseases, Udine University Hospital) ;
van Lingen, Corine (MetabERN, Regional Coordinating Center for Rare Diseases, Udine University Hospital) ;
Scarpa, Maurizio (MetabERN, Regional Coordinating Center for Rare Diseases, Udine University Hospital) ;
Universitat Autònoma de Barcelona
Inherited Metabolic Diseases (IMDs) are rare diseases caused by genetic defects in biochemical pathways. Earlier diagnosis and advances in treatment have improved the life expectancy of IMD patients over the last decades, with the majority of patients now surviving beyond the age of 20. [...]
2021 - 10.3389/fmed.2021.652358
Frontiers in Medicine, Vol. 8 (february 2021)
|
|
visitant ::
identificació
alerta personal via correu electrònic o subscribiu-vos al 
canal RSS.
