Søgeresultater - Nicholas Beauchamp
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1
Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome af Christiaan P. Sentner, Irene J. Hoogeveen, David A. Weinstein, René Santer, Elaine Murphy, Patrick McKiernan, Ulrike Steuerwald, Nicholas Beauchamp, Joanna Taybert, Pascal Laforêt, François Petit, Aurélie Hubert, Philippe Labrune, Gerrit Smit, Terry G. J. Derks
Udgivet 2016Artigo -
2
<i>RFC1</i> expansions are a common cause of idiopathic sensory neuropathy af Riccardo Currò, Alessandro Salvalaggio, Stefano Tozza, Chiara Gemelli, Natalia Dominik, Valentina Galassi Deforie, Francesca Magrinelli, Francesca Castellani, Elisa Vegezzi, Pietro Businaro, Ilaria Callegari, Anna Pichiecchio, Giuseppe Cosentino, Enrico Alfonsi, Enrico Marchioni, Silvia Colnaghi, Simone Gana, Enza Maria Valente, Cristina Tassorelli, Stéphanie Efthymiou, Stefano Facchini, Aisling Carr, Matilde Laurá, Alexander M. Rossor, Hadi Manji, Michael P. Lunn, Elena Pegoraro, Lucio Santoro, Marina Grandis, Emilia Bellone, Nicholas Beauchamp, Marios Hadjivassiliou, Diego Kaski, Adolfo M. Bronstein, Henry Houlden, Mary M. Reilly, Paola Mandich, Angelo Schenone, Fiore Manganelli, Chiara Briani, Andrea Cortese
Udgivet 2021Artigo
Søgeredskaber:
Relaterede emner
Internal medicine
Medicine
Biochemistry
Biology
Cardiomyopathy
Chronic liver disease
Cirrhosis
Cohort
Diabetes mellitus
Disease
Endocrinology
Enzyme replacement therapy
Gastroenterology
Gene
Gene mutation
Glycogen storage disease
Heart failure
Missense mutation
Mutation
Neuroscience
Peripheral neuropathy
Psychology
Retrospective cohort study
Sensory neuropathy