International Classification of Inherited Metabolic Disorders

Carlos R. Ferreira, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
Shamima Rahman, Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, United Kingdom
Johannes Zschocke, Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria

The authors can be contacted

• Jose Abdenur, Division of Metabolic Disorders, CHOC Children's Hospital, Orange, California, USA
• Houda Ali, Inserm, US14-Orphanet, Paris, France
• Rafael Artuch, Hospital Sant Joan de Déu, Esplugues de llobregat, Barcelona, Spain
• Andrea Ballabio, Telethon Institute of Genetics and Medicine (TIGEM) and Medical Genetics Unit, Department of Translational Medicine, Federico II University, Naples, Italy; Department of Molecular and Human Genetics, Baylor College of Medicine and Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, TX, USA
• Bruce Barshop, Dept of Pediatrics, University of California San Diego, La Jolla, California, USA
• Matthias Baumgartner, Division of Metabolism, University Children's Hospital Zürich, Switzerland
• Enrico Silvio Bertini, Dept. of Neurosciences, Bambino Gesù, Children's Research Hospital, Rome, Italy
• Nenad Blau, Division of Metabolism, University Children's Hospital Zürich, Switzerland
• Valerio Carelli, IRCCS Institute of Neurological Sciences of Bologna, Bologna, Italy; 2. Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy
• Christopher Carroll, Genetics Research Centre, Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, UK
• Patrick F. Chinnery, Department of Clinical Neurosciences, School of Clinical Medicine & Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK
• John Christodoulou, Murdoch Children's Research Institute, Melbourne, Victoria, Australia
• Veronica Cornejo, Genetics & Metabolic Disease Laboratory, Nutrition & Food Technology Institute (INTA), University of Chile, Santiago, Chile
• Niklas Darin, Dept of Pediatrics, University of Gothenburg, Sweden
• Terry Derks, Beatrix Children's Hospital, Division of Metabolic Diseases, University of Groningen, University Medical Center Groningen, The Netherlands
• Daria Diodato, Dept. of Neurosciences, Bambino Gesù Children's Research Hospital, Rome, Italy
• Carlo Dionisi-Vici, Bambino Gesù Children's Hospital, Rome, Italy
• John A. Duley, University of Queensland, St Lucia, Australia
• Toshi Fukao, Dept of Pediatrics, Yanagido, Gifu, Japan
• Ángeles García-Cazorla, Hospital Sant Joan de Déu, Esplugues de llobregat, Barcelona, Spain
• Roberto Giugliani, Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Brazil
• Amy Goldstein, Dept of Pediatrics, Div of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
• Georg Hoffmann, University Children's Hospital Heidelberg, Germany
• Rita Horvath, Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK
• Isabel Ibarra, Instituto de Investigaciones Biomédicas UNAM – Instituto Nacional de Pediatría SS CDMX México, Mexico
• Anita Inwood, Dept of Metabolic Medicine, Queensland Children's Hospital, South Brisbane, Queensland, Australia
• Jaak Jaeken, Centre of Metabolic Disease, University Hospital Leuven, Belgium
• Cecilia Jimenez-Mallebrera, Hospital Sant Joan de Déu, Esplugues de llobregat, Barcelona, Spain
• Amel Karaa, Genetics Unit, Mass General Brigham Hospital. Harvard Medical School, Boston, Massachusetts, USA
• Markus Keller, Institute of Human Genetics, Medical University Innsbruck, Austria
• Thomas Klopstock, Department of Neurology, Friedrich-Baur-Institute, University Hospital, LMU Munich; German Center for Neurodegenerative Diseases (DZNE); and Munich Cluster for Systems Neurology (SyNergy), Munich, Germany
• Stefan Kölker, University Children's Hospital Heidelberg, Germany
• Cornelia Kornblum, Klinik und Poliklinik für Neurologie, Universitätsklinikum Bonn, Bonn, Germany
• Viktor Kožich, Dept of Pediatrics & Inherited Metabolic Disorders, Charles University-First Faculty of Medicine and General University Hospital, Prague, Czech Republic
• Costanza Lamperti, Division of Medical Genetics and Neurogenetic, Fondazione IRCCS Istituto Neurologico "C. Besta", Milano, Italy
• Nils-Göran Larsson, Division of Molecular Metabolism, Department of Medical Biochemistry and Biophysics (MBB), Karolinska Institutet, Stockholm, Sweden
• Aida Lemes, Instituto de la Seguridad Social-BPS, Montevideo, Uruguay
• Barry Lewis, Dept of Clinical Biochemistry, PathWest, Nedlands, Perth, Australia
• Michelangelo Mancuso, Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Italy
• Robert McFarland, Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK
• Fanny Mochel, Reference Center for Adult Neurometabolic diseases, Sorbonne Université, La Pitié-Salpêtrière Hospital, Paris, France
• Julio Montoya, Departamento de Bioquímica, Biología Molecular y Celular; Universidad de Zaragoza. Instituto de Investigación Sanitaria (IIS) de Aragón. Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER). 50013-Zaragoza, Spain
• Eva Morava, Dept of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA
• Karin Naess, Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden
• Torayuki Okuyama, National Center for Child Health and Development, Okura, Setagaya-ku, Japan
• Annie Olry, Inserm, US14-Orphanet, Paris, France
• Veronique Paquis-Flucklinger, Reference Centre for Mitochondrial Diseases, Dept of Medical Genetics, University of Nice Côte d'Azur, Nice, France
• Sumit Parikh, Center for Pediatric Neurosciences, Cleveland Clinic Main Campus, Cleveland, Ohio, USA
• Marc Patterson, Division of Child & Adolescent Neurology, Mayo Clinic, Rochester, Minnesota, USA
• Ceila Pérez de Ferrán, Hospital Infantil Dr. Robert Reid Cabral, Santo Domingo, Dominican Republic
• Verena Peters, University Children's Hospital Heidelberg, Germany
• Holger Prokisch, Institute of Human Genetics, School of Medicine, Technische Universität München, Munich, Germany
• Ann Saada, Dept. of Genetics, Hadassah Medical Center & Faculty of Medicine, Hebrew University of Jerusalem, Israel
• Gajja S. Salomons, Genetic Metabolic Diseases & Metabolic Unit, Amsterdam University Medical Centers, Amsterdam, The Netherlands
• Jean-Marie Saudubray, Paris, France
• Maurizio Scarpa, Center for Rare Diseases, Udine University Hospital, and Department of Pediatrics, University of Padua, Italy
• Ulrike Schara-Schmidt, Department of Neuropediatrics, University Children's Hospital Essen, Germany
• Manuel Schiff, Necker Hospital, APHP, Reference Center for Inborn Error of Metabolism, Pediatrics Department, University of Paris, and Inserm UMR_S1163, Institut Imagine, Paris, France
• Serenella Servidei, Department of Neuroscience, Università Cattolica del Sacro Cuore, Neurophysiopathology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome
• Jan Smeitink, Khondrion, Nijmegen, The Netherlands
• Anu Suomalainen, Research Program of Stem Cells and Metabolism, Faculty of Medicine; Neuroscience Center, HiLife, University of Helsinki, Finland
• Trine Tangeraas, Oslo University Hospital Rikshospitalet, Oslo, Norway
• Robert W. Taylor, Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle, UK
• Ines Thiele, Discipline of Microbiology, School of Natural Science; School of Medicine; National University of Ireland, Galway, Ireland
• David Thorburn, Murdoch Children's Research Institute, Melbourne, Victoria, Australia
• Johan Van Hove, Dept of Pediatrics, University of Colorado, School of Medicine, Aurora, Colorado, USA
• Ans T van der Ploeg, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands
• Clara van Karnebeek, Dept of Pediatrics (Metabolic Diseases), Radboud University Medical Center & Dept of Pediatrics, Amsterdam University Medical Centers, The Netherlands
• Gepke Visser, Metabolic Diseases Dept, Wilhelmina Children's Hospital, Utrecht, The Netherlands
• Jerry Vockley, Dept of Pediatrics & Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA
• Ron Wanders, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centre, Amsterdam, The Netherlands
• Dianne Webster, Auckland City Hospital, Auckland, New Zealand
• Anna Wedell, Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden
• Veronica Wiley, The Children's Hospital at Westmead, Wentworthville, New South Wales, Australia
• Anna Wredenberg, Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden
• Massimo Zeviani, Department of Neurosciences and Veneto Institute of Molecular Medicine, University of Padua, Italy