Stefan Kölker1, Angeles Garcia Cazorla2, Vassili Valayannopoulos3, Allan M Lund4, Alberto B Burlina5, Jolanta Sykut-Cegielska6, Frits A Wijburg7, Elisa Leão Teles8, Jiri Zeman9, Carlo Dionisi-Vici10, Ivo Barić11, Daniela Karall12, Persephone Augoustides-Savvopoulou13, Lise Aksglaede4, Jean-Baptiste Arnoux3, Paula Avram14, Matthias R Baumgartner15, Javier Blasco-Alonso16, Brigitte Chabrol17, Anupam Chakrapani18, Kimberly Chapman19, Elisenda Cortès I Saladelafont2, Maria L Couce20, Linda de Meirleir21, Dries Dobbelaere22, Veronika Dvorakova9, Francesca Furlan5, Florian Gleich23, Wanda Gradowska24, Stephanie Grünewald25, Anil Jalan26, Johannes Häberle15, Gisela Haege23, Robin Lachmann27, Alexander Laemmle15, Eveline Langereis7, Pascale de Lonlay3, Diego Martinelli10, Shirou Matsumoto28, Chris Mühlhausen29, Hélène Ogier de Baulny30, Carlos Ortez2, Luis Peña-Quintana31, Danijela Petković Ramadža32, Esmeralda Rodrigues8, Sabine Scholl-Bürgi12, Etienne Sokal33, Christian Staufner23, Marshall L Summar19, Nicholas Thompson25, Roshni Vara34, Inmaculada Vives Pinera35, John H Walter36, Monique Williams37, Peter Burgard23. 1. Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany. Stefan.Koelker@med.uni-heidelberg.de. 2. Servicio de Neurologia and CIBERER, ISCIII, Hospital San Joan de Deu, Barcelona, Spain. 3. Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Reference Center for Inherited Metabolic Disease, Necker-Enfants Malades University Hospital and IMAGINE Institute, Paris, France. 4. Centre for Inherited Metabolic Diseases, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark. 5. U.O.C. Malattie Metaboliche Ereditarie, Azienda Ospedaliera di Padova, Padova, Italy. 6. Screening Department, Institute of Mother and Child, Warsaw, Poland. 7. Department of Pediatrics, Academisch Medisch Centrum, Amsterdam, Netherlands. 8. Unidade de Doenças Metabólicas, Serviço de Pediatria, Hospital de S. João, EPE, Porto, Portugal. 9. First Faculty of Medicine, Charles University and General University of Prague, Prague, Czech Republic. 10. U.O.C. Patologia Metabolica, Ospedale Pediatrico Bambino Gésu, Rome, Italy. 11. School of Medicine, University Hospital Center Zagreb and University of Zagreb, Zagreb, Croatia. 12. Clinic for Pediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria. 13. 1st Pediatric Department, Metabolic Laboratory, General Hospital of Thessaloniki 'Hippocration', Thessaloniki, Greece. 14. Institute of Mother and Child Care "Alfred Rusescu", Bucharest, Romania. 15. Division of Metabolism and Children's Research Centre, University Children's Hospital Zurich, Steinwiesstraße 75, CH-8032, Zurich, Switzerland. 16. Hospital Materno-Infantil (HRU Carlos Haya), Málaga, Spain. 17. Centre de Référence des Maladies Héréditaires du Métabolisme, Service de Neurologie, Hôpital d'Enfants, CHU Timone, Marseilles, France. 18. Birmingham Children's Hospital NHS Foundation Trust, Steelhouse Lane, Birmingham, B4 6NH, UK. 19. Children's National Medical Center, 111 Michigan Avenue, N.W., Washington, DC, 20010, USA. 20. Metabolic Unit, Department of Pediatrics, Hospital Clinico Universitario de Santiago de Compostela, Santiago de Compostela, Spain. 21. University Hospital Vrije Universiteit Brussel, Bruxelles, Belgium. 22. Centre de Référence des Maladies Héréditaires du Métabolisme de l'Enfant et de l'Adulte, Hôpital Jeanne de Flandre, Lille, France. 23. Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany. 24. Department of Laboratory Diagnostics, The Children's Memorial Health Institute, Warsaw, Poland. 25. Metabolic Unit Great Ormond Street Hospital and Institute for Child Health, University College London, London, UK. 26. N.I.R.M.A.N., Om Rachna Society, Vashi, Navi Mumbai, Mumbai, India. 27. Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK. 28. Department of Pediatrics, Kumamoto University Hospital, Kumamoto City, Japan. 29. Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany. 30. Hôpital Robert Debré, Université de Paris, Paris, France. 31. Hospital Universitario Materno-Infantil de Canarias, Unit of Pediatric Gastroenterology, Hepatology and Nutrition, University of Las Palmas de Gran Canaria, Las Palmas de Gran Canaria, Spain. 32. University Hospital Center Zagreb, Zagreb, Croatia. 33. Service Gastroentérologie and Hépatologie Pédiatrique, Cliniques Universitaires St Luc, Université Catholique de Louvain, Bruxelles, Belgium. 34. Evelina Children's Hospital, St Thomas' Hospital, London, UK. 35. Inborn Metabolic Disease Unit, Hospital Virgen de la Arrixaca de Murcia, El Palmar, Spain. 36. Manchester Academic Health Science Centre, Willink Biochemical Genetics Unit, Genetic Medicine, University of Manchester, Manchester, UK. 37. Erasmus MC-Sophia Kinderziekenhuis, Erasmus Universiteit Rotterdam, Rotterdam, Netherlands.
Authors: Stefan Kölker; Vassili Valayannopoulos; Alberto B Burlina; Jolanta Sykut-Cegielska; Frits A Wijburg; Elisa Leão Teles; Jiri Zeman; Carlo Dionisi-Vici; Ivo Barić; Daniela Karall; Jean-Baptiste Arnoux; Paula Avram; Matthias R Baumgartner; Javier Blasco-Alonso; S P Nikolas Boy; Marlene Bøgehus Rasmussen; Peter Burgard; Brigitte Chabrol; Anupam Chakrapani; Kimberly Chapman; Elisenda Cortès I Saladelafont; Maria L Couce; Linda de Meirleir; Dries Dobbelaere; Francesca Furlan; Florian Gleich; Maria Julieta González; Wanda Gradowska; Stephanie Grünewald; Tomas Honzik; Friederike Hörster; Hariklea Ioannou; Anil Jalan; Johannes Häberle; Gisela Haege; Eveline Langereis; Pascale de Lonlay; Diego Martinelli; Shirou Matsumoto; Chris Mühlhausen; Elaine Murphy; Hélène Ogier de Baulny; Carlos Ortez; Consuelo C Pedrón; Guillem Pintos-Morell; Luis Pena-Quintana; Danijela Petković Ramadža; Esmeralda Rodrigues; Sabine Scholl-Bürgi; Etienne Sokal; Marshall L Summar; Nicholas Thompson; Roshni Vara; Inmaculada Vives Pinera; John H Walter; Monique Williams; Allan M Lund; Angeles Garcia-Cazorla; Angeles Garcia Cazorla Journal: J Inherit Metab Dis Date: 2015-04-15 Impact factor: 4.982
Authors: Jessica L Schneller; Ciaran M Lee; Leah E Venturoni; Randy J Chandler; Ang Li; Sangho Myung; Thomas J Cradick; Ayrea E Hurley; William R Lagor; Gang Bao; Charles P Venditti Journal: Mol Ther Methods Clin Dev Date: 2021-11-11 Impact factor: 6.698