JOURNAL OF INHERITED METABOLIC DISEASE

作者J. (Julia) Holdorp; M. E. (Michelle) Kruijshaar; A. A. M. (Audrey) Vollebregt; A. B. (Andre) Rietman; M. R. K. (Marianne) Dijkstra; C. (Carina) Klees; M. (Margreet) Wagenmakers; A. H. P. (Annie) Nguyen; E. (Esmee) Oussoren; A. T. (Ans) van der Ploeg; J. M. P. (Hannerieke) van den Hout

作者单位1. Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center Rotterdam the Netherlands; 2. Department of Paediatrics Erasmus MC University Medical Center Rotterdam the Netherlands; 3. Department of Child and Adolescent Psychiatry and Psychology Erasmus MC University Medical Center Rotterdam the Netherlands; 4. Department of Internal Medicine Erasmus MC University Medical Center Rotterdam the Netherlands; 5. Department of Psychiatry Erasmus MC University Medical Center Rotterdam the Netherlands

作者Barbara Siri; Diego Martinelli; Rosalba Carrozzo; Sara Boenzi; Sara Cairoli; Cristiano Rizzo; Teresa Giovanniello; Johannes Häberle; Carlo Dionisi‐Vici

作者单位1. Division of Metabolic Diseases and Hepatology Bambino Gesù Children's Hospital IRCCS Rome Italy; 2. Translational Cytogenomics Research Unit, Laboratory of Medical Genetics Bambino Gesù Children's Hospital, IRCCS Rome Italy; 3. Clinical Pathology Unit AOU Policlinico Umberto I Rome Italy; 4. University Children's Hospital Zurich and Children's Research Centre, University of Zurich Zurich Switzerland

作者Silvio Veraldi; Maria Sole Basso; Giovanna Soglia; Riccardo Cirelli; Gionata Spagnoletti; Silvia Maria Bernabei; Alessia Esposito; Cristiano Rizzo; Sara Cairoli; Diego Martinelli; Lidia Monti; Marco Spada; Andrea Pietrobattista; Carlo Dionisi‐Vici

作者单位1. Division of Metabolic Diseases and Hepatology Bambino Gesù Children's Hospital IRCCS Rome Italy; 2. Radiology Unit Bambino Gesù Children's Hospital IRCCS Rome Italy; 3. Division of Hepatobiliopancreatic Surgery, Liver and Kidney Transplantation Bambino Gesù Children's Hospital IRCCS Rome Italy; 4. Department SITRA Nutritional Rehabilitation Unit Bambino Gesù Children's Hospital IRCCS Rome Italy

作者Troy von Beck; Raymond Wang; Dwight Koeberl

作者单位1. Division of Medical Genetics, Department of Pediatrics Duke University School of Medicine Durham North Carolina USA; 2. Department of Pediatrics University of California‐Irvine School of Medicine Irvine California USA; 3. Division of Metabolic Disorders Rady Children's Health Specialists Orange California USA; 4. Department of Molecular Genetics and Microbiology Duke University School of Medicine Durham North Carolina USA

作者Mercedes Serrano; Florencia Epifani; Rose Marino; Peter McWilliams

作者单位1. Neuropediatric Department, Hospital Sant Joan de Déu Institut de Recerca Sant Joan de Déu (IRSJD) Barcelona Spain; 2. U‐703 Center for Biomedical Research Network on Rare Diseases (CIBERER) Instituto de Salud Carlos III (ISCIII) Madrid Spain; 3. Universitat de Barcelona Barcelona Spain; 4. Glycomine Inc. San Carlos California USA

作者Lea Isermann; Aleksandra Trifunovic

作者单位1. Faculty of Medicine, University Hospital Cologne, Institute for Mitochondrial Diseases in Ageing and Cologne Excellence Cluster on Cellular Stress Responses in Ageing‐Associated Diseases (CECAD), University of Cologne Cologne Germany; 2. Center for Molecular Medicine Cologne (CMMC), University of Cologne Cologne Germany

作者Antje Banning; Lidia Reznikova; Adla Murad; Ritva Tikkanen

作者单位1. Institute of Biochemistry, Medical Faculty University of Giessen Giessen Germany

作者John J. Mitchell; Jose E. Abdenur; Foekje de Boer; Monica Boyer; Margo Sheck Breilyn; María‐Luz Couce; Diva D. De Leon; Terry G. Derks; Areeg El‐Gharbawy; Andrea B. Haijer‐Schreuder; Karen Loechner; Nicola Longo; Allan M. Lund; Miguel Angel Martinez Olmos; Shawn E. McCandless; Bibiana Mello de Oliveira; Malaya Mount; Nicole Muschol; Kristina Pytlak; Kadakkal Radhakrishnan; Rebecca Riba‐Wolman; David F. Rodriguez‐Buritica; Alessandro La Rosa; Alessandro Rossi; Heather Saavedra; René Santer; Brian Shayota; G. Peter A. Smit; Carolina F. Moura De Souza; Melanie M. van der Klauw; David A. Weinstein; Joseph I. Wolfsdorf; Anne Blake; Andrew A. Grimm; Deepali Mitragotri; Syeda Rahman; Diane M. Turner‐Bowker; Richard Collis

作者单位1. Montreal Children's Hospital Montreal Quebec Canada; 2. Rady Children's Health Orange California USA; 3. University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, Section of Metabolic Diseases Groningen the Netherlands; 4. UMCG Center of Expertise for Carbohydrate, Fatty Acid Oxidation and Ketone Bodies Disorders University Medical Center Groningen Groningen the Netherlands; 5. Mount Sinai New York New York USA; 6. Hospital Clínico Universitario de Santiago de Compostela, IDIS, CIBERER Santiago de Compostela Spain; 7. Children's Hospital of Philadelphia Philadelphia Pennsylvania USA; 8. Duke University Medical Center Durham North Carolina USA; 9. University of Connecticut Farmington Connecticut USA; 10. University of Utah Salt Lake City Utah USA; 11. Centre for Inherited Metabolic Diseases, Rigshospitalet Copenhagen Denmark; 12. Hospital Clínico Universitario de Santiago de Compostela, IDIS, CIBEROBN Santiago de Compostela Spain; 13. Children's Hospital Colorado Aurora Colorado USA; 14. Hospital de Clinicas de Porto Alegre Porto Alegre Brazil; 15. University Medical Center Hamburg‐Eppendorf Hamburg Germany; 16. Cleveland Clinic Childrens Cleveland Ohio USA; 17. Department of Pediatrics, Division of Medical Genetics McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth Houston) and Children's Memorial Hermann Hospital Houston Texas USA; 18. Pediatric Clinic and Endocrinology Unit, IRCCS Istituto Giannina Gaslini Genoa Italy; 19. Department of Translational Medicine University of Naples Federico II Naples Italy; 20. Department of Endocrinology University of Groningen, University Medical Center Groningen Groningen the Netherlands; 21. Boston Children's Hospital Boston Massachusetts USA; 22. Ultragenyx Pharmaceutical Inc. Novato California USA

作者Juliana Ribeiro‐Constante; Trine Tangeraas; Angeles García‐Cazorla

作者单位1. Neurometabolic Unit and Synaptic Metabolism Lab, Department of Neurology Hospital Sant Joan de Déu—IRSJD and CIBERER Barcelona Spain; 2. Medicina i Recerca Translacional, Facultat de Medicina i Ciències de la Salut Universitat de Barcelona Barcelona Spain; 3. European Reference Network for Hereditary Metabolic Diseases (MetabERN); 4. Paediatric and Adolescent Medicine Oslo University Hospital Oslo Norway

作者Karolina M. Stepien; Jolanta Sykut‐Cegielska; Jennifer Sloan; Flavia Piazzon; Sarah Bick; Juliette Bouchereau; Edwin C. Ferren; Nina Gold; Apolline Imbard; Mirian C. H. Janssen; Pavel Jesina; Lisa A. Joseph; Amanda Krzywdzińska‐Rogowska; Louise Lapagesse; Fanny Mochel; Carol Van Ryzin; Manuel Schiff; Ida Vanessa Schwartz; Audrey Thurm; Wadih M. Zein; Charles P. Venditti; Martina Huemer; Irini Manoli

作者单位1. Salford Royal Hospital, Northern Care Alliance NHS Foundation Trust Salford UK; 2. Department of Inborn Errors of Metabolism and Pediatrics Institute of Mother and Child Warsaw Poland; 3. National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA; 4. Centre de référence maladies héréditaires du métabolisme, Hôpital Timone Enfants, APHM Marseille France; 5. Neurometabolic Unit Children's Institute São Paulo Brazil; 6. Division of Genetic Medicine, Department of Pediatrics University of Washington and Seattle Children's Hospital Seattle Washington USA; 7. Reference Center for Inborn Error of Metabolism, Hôpital Necker‐Enfants Malades, APHP and Université Paris Cité Paris France; 8. Wake Forest University School of Medicine, Atrium Health Pediatric Genetics Charlotte North Carolina USA; 9. Division of Medical Genetics and Metabolism Massachusetts General Hospital for Children Boston Massachusetts USA; 10. Department of Pediatrics Harvard Medical School Boston Massachusetts USA; 11. Department of Biochemistry Hôpital Necker‐Enfants Malades, APHP Paris France; 12. Paris‐Saclay University, CEA, Département Médicaments et Technologies pour La Santé (DMTS) Gif‐sur‐Yvette France; 13. Department of Internal Medicine Radboud University Medical Center Nijmegen the Netherlands; 14. Department of Pediatrics and Inherited Metabolic Disorders Charles University‐First Faculty of Medicine and General University Hospital Prague Czech Republic; 15. National Institute of Mental Health, National Institutes of Health Bethesda Maryland USA; 16. Medical Genetics Service/Reference Center for Rare Disorders ‐Hospital Infantil Joana de Gusmão Florianopolis Brazil; 17. Reference Center for Adult Neurometabolic Diseases, Assistance Publique Hôpitaux de Paris; Sorbonne University, La Pitié‐Salpêtrière University Hospital Paris France; 18. Inserm UMRS_1163, Institut Imagine Paris France; 19. Hospital de Clínicas de Porto Alegre and Department of Genetics Universidade Federal do Rio Grande do Sul Porto Alegre Brazil; 20. National Eye Institute, National Institutes of Health Bethesda Maryland USA; 21. Division of Metabolism and Children's Research Center University Children's Hospital Zürich Switzerland; 22. Department of Paediatrics LKH Bregenz Bregenz Austria; 23. Competence Area Healthcare and Nursing Vorarlberg University of Applied Sciences Dornbirn Austria