Zobrazeno 241 - 250
of 430
pro vyhledávání: '"Scholl-Bürgi, Sabine"'
Autor:
Ramoser G; Clinic for Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Guóth-Gumberger M; IBCLC in Private Practice, Rosenheim, Germany., Baumgartner-Sigl S; Clinic for Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Zoeggeler T; Clinic for Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Scholl-Bürgi S; Clinic for Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria., Karall D; Clinic for Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
Publikováno v:
Acta paediatrica (Oslo, Norway : 1992) [Acta Paediatr] 2019 Oct; Vol. 108 (10), pp. 1861-1866. Date of Electronic Publication: 2019 Apr 29.
Autor:
Zlamy M; Department of Pediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria. manuela.zlamy@i-med.ac.at., Hofstätter J; Department of Pediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria., Albrecht U; Department of Pediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria., Baumgartner S; Department of Pediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria., Haberlandt E; Children's Hospital Dornbirn, Dornbirn, Austria., Scholl-Bürgi S; Department of Pediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria., Guntersweiler D; University Hospital Zürich, Institute of Clinical Pathology, Zürich, Switzerland., Reinehr M; University Hospital Zürich, Institute of Clinical Pathology, Zürich, Switzerland., Mihic-Probst D; University Hospital Zürich, Institute of Clinical Pathology, Zürich, Switzerland., Karall D; Department of Pediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria. daniela.karall@i-med.ac.at.
Publikováno v:
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc [Mod Pathol] 2019 Jun; Vol. 32 (6), pp. 755-763. Date of Electronic Publication: 2019 Feb 05.
Autor:
Huemer M; Division of Metabolism and Children's Research Center, University Children's Hospital, Zürich, Switzerland.; radiz-Rare Disease Initiative Zürich, University Zürich, Zürich, Switzerland.; Department of Pediatrics, Landeskrankenhaus Bregenz, Bregenz, Austria., Diodato D; Division of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy., Martinelli D; Division of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy., Olivieri G; Division of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy., Blom H; Department of Internal Medicine, VU Medical Center, Amsterdam, The Netherlands., Gleich F; Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, Heidelberg, Germany., Kölker S; Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, Heidelberg, Germany., Kožich V; Department of Pediatrics and Adolescent Medicine, Charles University-First Faculty of Medicine and General University Hospital, Prague, Czech Republic., Morris AA; Willink Metabolic Unit, Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Seifert B; Department of Biostatistics at Epidemiology, Biostatistics and Prevention Institute, University Zürich, Zürich, Switzerland., Froese DS; Division of Metabolism and Children's Research Center, University Children's Hospital, Zürich, Switzerland.; radiz-Rare Disease Initiative Zürich, University Zürich, Zürich, Switzerland., Baumgartner MR; Division of Metabolism and Children's Research Center, University Children's Hospital, Zürich, Switzerland.; radiz-Rare Disease Initiative Zürich, University Zürich, Zürich, Switzerland., Dionisi-Vici C; Division of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy., Martin CA; Hospital Universitario Río Hortega, Valladolid, Spain., Baethmann M; Department of Pediatrics, Sozialpädiatrisches Zentrum, Klinikum Dritter Orden München-Nymphenburg, Munich, Germany., Ballhausen D; Center for Molecular Diseases, University Hospital Lausanne, Lausanne, Switzerland., Blasco-Alonso J; Sección de Gastroenterología y Nutrición Pediátrica, Hospital Regional de Málaga, Málaga, Spain., Boy N; Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, Heidelberg, Germany., Bueno M; Hospital Universitario Virgen del Rocío, Sevilla, Spain., Burgos Peláez R; Nutritional Support Unit, University Hospital Vall d'Hebron, Barcelona, Spain., Cerone R; University Department of Pediatrics, Giannina Gaslini Institute, Genoa, Italy., Chabrol B; Centre de Référence des Maladies Héréditaires du Métabolisme, CHU La Timone Enfants, Marseille, France., Chapman KA; Children's National Rare Disease Institute, Genetics and Metabolism, Washington, DC, USA., Couce ML; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Service of Neonatology, Department of PediatricsHospital Clínico Universitario de Santiago, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, Spain., Crushell E; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland., Dalmau Serra J; Unidad de Nutrición y Metabolopatías, Hospital Universitario La Fe, Valencia, Spain., Diogo L; Centro de Referência de Doencas Hereditárias do Metabolismo. Centro de Desenvolvimento da Criança - Hospital Pediátrico - Centro Hospitalar e Universitário De Coimbra, Coimbra, Portugal., Ficicioglu C; Division of Human Genetics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania., García Jimenez MC; Hospital Infantil Miguel Servet, Zaragoza, Spain., García Silva MT; Universitary Hospital 12 Octubre, Madrid, Spain., Gaspar AM; Centro Academico de Medicina de Lisboa, Lisbon, Portugal., Gautschi M; Interdisciplinary Metabolic Team, Paediatric Endocrinology, Diabetology and Metabolism, University Children's Hospital and University Institute of Clinical Chemistry Inselspital, Berne, Switzerland., González-Lamuño D; Department of Pediatrics, University Hospital Marqués de Valdecilla, Universidad de Cantabria, Santander, Spain., Gouveia S; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Service of Neonatology, Department of PediatricsHospital Clínico Universitario de Santiago, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, Spain., Grünewald S; Institute for Child HealthGreat Ormond Street Hospital, University College London, London, UK., Hendriksz C; Salford Royal NHS Foundation Trust, Salford, UK., Janssen MCH; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., Jesina P; Department of Pediatrics and Adolescent Medicine, Charles University-First Faculty of Medicine and General University Hospital, Prague, Czech Republic., Koch J; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria., Konstantopoulou V; Department of Pediatrics and Adolescent Medicine, Medical University Vienna, Vienna, Austria., Lavigne C; Médecine Interne et Maladies Vasculaires, Centre Hospitalier Universitaire Angers, Angers, France., Lund AM; Centre Inherited Metabolic Diseases, Departments of Clinical Genetics and Paediatrics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Martins EG; Reference Center for Inherited Metabolic Diseases, Centro Hospitalar do Porto, Porto, Portugal., Meavilla Olivas S; Division of Gastroenterology, Hepatology and Nutrition, Sant Joan de Déu Hospital, Barcelona, Spain., Mention K; Hôpital Jeanne de Flandre, Lille, France., Mochel F; Reference Center for Adult Neurometabolic Diseases, University Pierre and Marie Curie, La Pitié-Salpêtrière University Hospital, Paris, France., Mundy H; Evelina London Children's Hospital, London, UK., Murphy E; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK., Paquay S; Pediatric Neurology and Metabolic diseases department, Université Catholique de Louvain, Cliniques Universitaires Saint-Luc, Brussels, Belgium., Pedrón-Giner C; Division of Gastroenterology and Nutrition, University Children's Hospital Niño Jesús, Madrid, Spain., Ruiz Gómez MA; Metabolic Neuropediatric Unit, University Hospital Son Espases, Palma de Mallorca, Spain., Santra S; Clinical Inherited Metabolic Disorders, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Schiff M; Reference Center for Inherited Metabolic Diseases, AP-HP, Robert Debré Hospital, University Paris Diderot-Sorbonne Paris Cité and INSERM U1141, Paris, France., Schwartz IV; Hospital de Clínicas de Porto Alegre and Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Scholl-Bürgi S; Clinic for Pediatrics I, Inherited Metabolic Disorders Medical University of Innsbruck, Innsbruck, Austria., Servais A; Nephrology Department, Reference Center of Inherited Metabolic Diseases, Necker hospital, AP-HP, University Paris Descartes, Paris, France., Skouma A; Agia Sofia Children's Hospital 1st Department of Pediatrics, University of Athens Thivon & Levadias, Athens, Greece., Tran C; Center for Molecular Diseases, University Hospital Lausanne, Lausanne, Switzerland., Vives Piñera I; Hospital Universitario Virgen de la Arrixaca, El Palmar, Spain., Walter J; Willink Metabolic Unit, Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.; Department of Paediatrics, Bradford Royal Infirmary, Bradford, UK., Weisfeld-Adams J; Inherited Metabolic Diseases Clinic, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2019 Mar; Vol. 42 (2), pp. 333-352. Date of Electronic Publication: 2019 Feb 17.
Autor:
Michel M; Department of Pediatrics III, Division of Cardiology, Pulmology, Allergology, and Cystic Fibrosis, Innsbruck Medical University, Anichstraße 35, 6020 Innsbruck, Austria., Zlamy M; Department of Pediatrics I, Innsbruck Medical University, Anichstraße 35, 6020 Innsbruck, Austria., Entenmann A; Department of Pediatrics I, Innsbruck Medical University, Anichstraße 35, 6020 Innsbruck, Austria., Pichler K; Department of Pediatrics, Vienna Medical University, Währinger Gürtel 16, 1090 Vienna, Austria., Scholl-Bürgi S; Department of Pediatrics I, Innsbruck Medical University, Anichstraße 35, 6020 Innsbruck, Austria., Karall D; Department of Pediatrics I, Innsbruck Medical University, Anichstraße 35, 6020 Innsbruck, Austria., Geiger R; Department of Pediatrics III, Division of Cardiology, Pulmology, Allergology, and Cystic Fibrosis, Innsbruck Medical University, Anichstraße 35, 6020 Innsbruck, Austria., Salvador C; Department of Pediatrics I, Innsbruck Medical University, Anichstraße 35, 6020 Innsbruck, Austria., Niederwanger C; Department of Pediatrics I, Innsbruck Medical University, Anichstraße 35, 6020 Innsbruck, Austria., Ohuchi H; Department for Pediatric Cardiology, National Cerebral and Cardiovascular Center, 5-7-1 Fujishiro-dai, Suita, Osaka 565-8565, Japan.
Publikováno v:
Cardiovascular & hematological disorders drug targets [Cardiovasc Hematol Disord Drug Targets] 2019; Vol. 19 (3), pp. 205-214.
Autor:
Zeltner NA; Division of Metabolism, Children's Research Center, University Children's Hospital, Zurich, Switzerland.; Department of Psychosomatics and Psychiatry, Children's Research Center, University Children's Hospital, Zurich, Switzerland.; radiz - Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland.; Division of Child and Adolescent Health Psychology, Department of Psychology, University of Zurich, Zurich, Switzerland., Baumgartner MR; Division of Metabolism, Children's Research Center, University Children's Hospital, Zurich, Switzerland.; radiz - Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland.; Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland., Bondarenko A; Center for Paediatric and Adolescent Medicine, Division for Neuropaediatrics and Metabolic Medicine, Heidelberg University Hospital, Heidelberg, Germany., Ensenauer R; Division of Experimental Pediatrics and Metabolism, Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Karall D; Clinic for Pediatrics, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria., Kölker S; Center for Paediatric and Adolescent Medicine, Division for Neuropaediatrics and Metabolic Medicine, Heidelberg University Hospital, Heidelberg, Germany., Mühlhausen C; University Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Scholl-Bürgi S; Clinic for Pediatrics, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria., Thimm E; Division of Experimental Pediatrics and Metabolism, Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Quitmann J; Department of Medical Psychology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Burgard P; Center for Paediatric and Adolescent Medicine, Division for Neuropaediatrics and Metabolic Medicine, Heidelberg University Hospital, Heidelberg, Germany., Landolt MA; Department of Psychosomatics and Psychiatry, Children's Research Center, University Children's Hospital, Zurich, Switzerland.; Division of Child and Adolescent Health Psychology, Department of Psychology, University of Zurich, Zurich, Switzerland., Huemer M; Division of Metabolism, Children's Research Center, University Children's Hospital, Zurich, Switzerland. martina.huemer@kispi.uzh.ch.; radiz - Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland. martina.huemer@kispi.uzh.ch.; Department of Paediatrics, LKH Bregenz, Bregenz, Austria. martina.huemer@kispi.uzh.ch.
Publikováno v:
JIMD reports [JIMD Rep] 2017; Vol. 37, pp. 27-35. Date of Electronic Publication: 2017 Mar 01.
Autor:
Briggs TA; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK. tracy.briggs@manchester.ac.uk.; St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK. tracy.briggs@manchester.ac.uk., Rice GI; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK., Adib N; Department of Rheumatology, The Lady Cilento Children's Hospital, Brisbane, Australia., Ades L; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, Australia.; Discipline of Paedatrics and Child Health, The University of Sydney, Sydney, Australia., Barete S; Dermatology Department, Pitie-Salpetriere Hospital, Paris, France., Baskar K; Creighton University, 2500 California Plaza, Omaha, NE, 68178, USA., Baudouin V; Pediatric Nephrology Department, Robert Debré University Hospital- APHP, 48 boulevard Sérurier, 75019, Paris, France., Cebeci AN; Goztepe Educational and Research Hospital Pediatric Endocrinology Clinic, Istanbul, Türkiye., Clapuyt P; Pediatric Imaging Unit, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium., Coman D; Neuroscience Department, The Lady Cilento Children's Hospital, Brisbane, Australia.; School of Medicine, Griffith University, Gold Coast, Australia., De Somer L; Pediatric Rheumatology, Department of Pediatrics, University Hospitals Leuven, B-3000, Leuven, Belgium., Finezilber Y; Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel Aviv, Israel., Frydman M; Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel Aviv, Israel.; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel., Guven A; Goztepe Educational and Research Hospital Pediatric Endocrinology Clinic, Istanbul, Türkiye.; Amasya University Medical Faculty, Department of Pediatric Endocrinology, Istanbul, Türkiye., Heritier S; Department of Pediatric Hematology and Oncology, Trousseau Hospital, Assistance Publique-Hôpitaux de Paris (APHP), Paris, France., Karall D; Clinic for Pediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Anichstr. 35, A-6020, Innsbruck, Austria., Kulkarni ML; J. J. M. Medical College, Davangere, Karnataka, 577004, India., Lebon P; Service de Virologie, AP-HP Hôpital Cochin, Paris, France., Levitt D; Department of Paediatrics, The Lady Cilento Children's Hospital, Brisbane, Australia., Le Merrer M; Centre de Référence des Maladies Osseuses Constitutionnelles et Institut Imagine, Hopital Necker 149 rue de Sevres, 75015, Paris, France., Linglart A; APHP, Bicêtre Paris Sud, Department of Pediatric Endocrinology and Diabetology for Children, 94270, Le Kremlin Bicêtre, France.; Reference Center for Rare Disorders of the Mineral Metabolism and Plateforme d'expertise Paris Sud Maladies Rares, APHP, 94270, Le Kremlin Bicêtre, France., Livingston JH; Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Navarro V; Epilepsy Unit, Pitie-Salpetriere Hospital, Paris, France., Okenfuss E; Kaiser Permanente - Genetics, 1650 Response Rd, Sacramento, CA, 95815, USA., Puel A; Génétique Humaine des Maladies Infectieuses, INSERM UMR 1163, Université Paris Descartes Sorbonne Paris Cité, Institut Imagine, Pièce 421-B1, 24 boulevard du Montparnasse, 75015, Paris, France., Revencu N; Centre for Human Genetics, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium., Scholl-Bürgi S; Clinic for Pediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Anichstr. 35, A-6020, Innsbruck, Austria., Vivarelli M; Division of Nephrology, IRCCS Bambino Gesu' Pediatric Hospital, Rome, Italy., Wouters C; Department of Microbiology and Immunology, Pediatric Immunology, KU Leuven, University of Leuven, Leuven, Belgium., Bader-Meunier B; Pediatric Immunology and Rheumatology Unit, Hôpital Necker, APHP, Paris, France.; Institut Imagine, Paris, France., Crow YJ; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.; Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, 24 boulevard du Montparnasse, 75015, Paris, France.
Publikováno v:
Journal of clinical immunology [J Clin Immunol] 2016 Jul; Vol. 36 (5), pp. 529-530.
Autor:
Kölker S; 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., Garcia-Cazorla A; Servicio de Neurologia and CIBERER, ISCIII, Hospital San Joan de Deu, Barcelona, Spain., Valayannopoulos V; 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., Lund AM; Centre for Inherited Metabolic Diseases, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Burlina AB; U.O.C. Malattie Metaboliche Ereditarie, Azienda Ospedaliera di Padova, Padova, Italy., Sykut-Cegielska J; Screening Department, Institute of Mother and Child, Warsaw, Poland., Wijburg FA; Department of Pediatrics, Academisch Medisch Centrum, Amsterdam, Netherlands., Teles EL; Unidade de Doenças Metabólicas, Serviço de Pediatria, Hospital de S. João, EPE, Porto, Portugal., Zeman J; First Faculty of Medicine, Charles University and General University of Prague, Prague, Czech Republic., Dionisi-Vici C; U.O.C. Patologia Metabolica, Ospedale Pediatrico Bambino Gésu, Rome, Italy., Barić I; School of Medicine, University Hospital Center Zagreb and University of Zagreb, Zagreb, Croatia., Karall D; Clinic for Pediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria., Augoustides-Savvopoulou P; 1st Pediatric Department, Metabolic Laboratory, General Hospital of Thessaloniki 'Hippocration', Thessaloniki, Greece., Aksglaede L; Centre for Inherited Metabolic Diseases, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Arnoux JB; 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., Avram P; Institute of Mother and Child Care 'Alfred Rusescu', Bucharest, Romania., Baumgartner MR; Division of Metabolism and Children's Research Centre, University Children's Hospital Zurich, Steinwiesstraße 75, CH-8032, Zurich, Switzerland., Blasco-Alonso J; Hospital Materno-Infantil (HRU Carlos Haya), Málaga, Spain., Chabrol B; Centre de Référence des Maladies Héréditaires du Métabolisme, Service de Neurologie, Hôpital d'Enfants, CHU Timone, Marseilles, France., Chakrapani A; Birmingham Children's Hospital NHS Foundation Trust, Steelhouse Lane, Birmingham, B4 6NH, UK., Chapman K; Children's National Medical Center, 111 Michigan Avenue, N.W., Washington, DC, 20010, USA., I Saladelafont EC; Servicio de Neurologia and CIBERER, ISCIII, Hospital San Joan de Deu, Barcelona, Spain., Couce ML; Metabolic Unit, Department of Pediatrics, Hospital Clinico Universitario de Santiago de Compostela, Santiago de Compostela, Spain., de Meirleir L; University Hospital Vrije Universiteit Brussel, Bruxelles, Belgium., Dobbelaere D; Centre de Référence des Maladies Héréditaires du Métabolisme de l'Enfant et de l'Adulte, Hôpital Jeanne de Flandre, Lille, France., Dvorakova V; First Faculty of Medicine, Charles University and General University of Prague, Prague, Czech Republic., Furlan F; U.O.C. Malattie Metaboliche Ereditarie, Azienda Ospedaliera di Padova, Padova, Italy., Gleich F; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany., Gradowska W; Department of Laboratory Diagnostics, The Children's Memorial Health Institute, Warsaw, Poland., Grünewald S; Metabolic Unit Great Ormond Street Hospital and Institute for Child Health, University College London, London, UK., Jalan A; N.I.R.M.A.N., Om Rachna Society, Vashi, Navi Mumbai, Mumbai, India., Häberle J; Division of Metabolism and Children's Research Centre, University Children's Hospital Zurich, Steinwiesstraße 75, CH-8032, Zurich, Switzerland., Haege G; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany., Lachmann R; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK., Laemmle A; Division of Metabolism and Children's Research Centre, University Children's Hospital Zurich, Steinwiesstraße 75, CH-8032, Zurich, Switzerland., Langereis E; Department of Pediatrics, Academisch Medisch Centrum, Amsterdam, Netherlands., de Lonlay P; 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., Martinelli D; U.O.C. Patologia Metabolica, Ospedale Pediatrico Bambino Gésu, Rome, Italy., Matsumoto S; Department of Pediatrics, Kumamoto University Hospital, Kumamoto City, Japan., Mühlhausen C; Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany., de Baulny HO; Hôpital Robert Debré, Université de Paris, Paris, France., Ortez C; Servicio de Neurologia and CIBERER, ISCIII, Hospital San Joan de Deu, Barcelona, Spain., Peña-Quintana L; 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., Ramadža DP; University Hospital Center Zagreb, Zagreb, Croatia., Rodrigues E; Unidade de Doenças Metabólicas, Serviço de Pediatria, Hospital de S. João, EPE, Porto, Portugal., Scholl-Bürgi S; Clinic for Pediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria., Sokal E; Service Gastroentérologie and Hépatologie Pédiatrique, Cliniques Universitaires St Luc, Université Catholique de Louvain, Bruxelles, Belgium., Staufner C; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany., Summar ML; Children's National Medical Center, 111 Michigan Avenue, N.W., Washington, DC, 20010, USA., Thompson N; Metabolic Unit Great Ormond Street Hospital and Institute for Child Health, University College London, London, UK., Vara R; Evelina Children's Hospital, St Thomas' Hospital, London, UK., Pinera IV; Inborn Metabolic Disease Unit, Hospital Virgen de la Arrixaca de Murcia, El Palmar, Spain., Walter JH; Manchester Academic Health Science Centre, Willink Biochemical Genetics Unit, Genetic Medicine, University of Manchester, Manchester, UK., Williams M; Erasmus MC-Sophia Kinderziekenhuis, Erasmus Universiteit Rotterdam, Rotterdam, Netherlands., Burgard P; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2015 Nov; Vol. 38 (6), pp. 1041-57. Date of Electronic Publication: 2015 Apr 15.
Autor:
Kölker S; 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., Cazorla AG; Servicio de Neurologia and CIBERER, ISCIII, Hospital San Joan de Deu, Barcelona, Spain., Valayannopoulos V; 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., Lund AM; Centre for Inherited Metabolic Diseases, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Burlina AB; U.O.C. Malattie Metaboliche Ereditarie, Azienda Ospedaliera di Padova, Padova, Italy., Sykut-Cegielska J; Screening Department, Institute of Mother and Child, Warsaw, Poland., Wijburg FA; Department of Pediatrics, Academisch Medisch Centrum, Amsterdam, Netherlands., Teles EL; Unidade de Doenças Metabólicas, Serviço de Pediatria, Hospital de S. João, EPE, Porto, Portugal., Zeman J; First Faculty of Medicine, Charles University and General University of Prague, Prague, Czech Republic., Dionisi-Vici C; U.O.C. Patologia Metabolica, Ospedale Pediatrico Bambino Gésu, Rome, Italy., Barić I; School of Medicine, University Hospital Center Zagreb and University of Zagreb, Zagreb, Croatia., Karall D; Clinic for Pediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria., Augoustides-Savvopoulou P; 1st Pediatric Department, Metabolic Laboratory, General Hospital of Thessaloniki 'Hippocration', Thessaloniki, Greece., Aksglaede L; Centre for Inherited Metabolic Diseases, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Arnoux JB; 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., Avram P; Institute of Mother and Child Care 'Alfred Rusescu', Bucharest, Romania., Baumgartner MR; Division of Metabolism and Children's Research Centre, University Children's Hospital Zurich, Steinwiesstraße 75, CH-8032, Zurich, Switzerland., Blasco-Alonso J; Hospital Materno-Infantil (HRU Carlos Haya), Málaga, Spain., Chabrol B; Centre de Référence des Maladies Héréditaires du Métabolisme, Service de Neurologie, Hôpital d'Enfants, CHU Timone, Marseilles, France., Chakrapani A; Birmingham Children's Hospital NHS Foundation Trust, Steelhouse Lane, Birmingham, B4 6NH, UK., Chapman K; Children's National Medical Center, 111 Michigan Avenue, N.W., Washington, DC, 20010, USA., I Saladelafont EC; Servicio de Neurologia and CIBERER, ISCIII, Hospital San Joan de Deu, Barcelona, Spain., Couce ML; Metabolic Unit, Department of Pediatrics, Hospital Clinico Universitario de Santiago de Compostela, Santiago de Compostela, Spain., de Meirleir L; University Hospital Vrije Universiteit Brussel, Bruxelles, Belgium., Dobbelaere D; Centre de Référence des Maladies Héréditaires du Métabolisme de l'Enfant et de l'Adulte, Hôpital Jeanne de Flandre, Lille, France., Dvorakova V; First Faculty of Medicine, Charles University and General University of Prague, Prague, Czech Republic., Furlan F; U.O.C. Malattie Metaboliche Ereditarie, Azienda Ospedaliera di Padova, Padova, Italy., Gleich F; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany., Gradowska W; Department of Laboratory Diagnostics, The Children's Memorial Health Institute, Warsaw, Poland., Grünewald S; Metabolic Unit Great Ormond Street Hospital and Institute for Child Health, University College London, London, UK., Jalan A; N.I.R.M.A.N., Om Rachna Society, Vashi, Navi Mumbai, Mumbai, India., Häberle J; Division of Metabolism and Children's Research Centre, University Children's Hospital Zurich, Steinwiesstraße 75, CH-8032, Zurich, Switzerland., Haege G; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany., Lachmann R; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK., Laemmle A; Division of Metabolism and Children's Research Centre, University Children's Hospital Zurich, Steinwiesstraße 75, CH-8032, Zurich, Switzerland., Langereis E; Department of Pediatrics, Academisch Medisch Centrum, Amsterdam, Netherlands., de Lonlay P; 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., Martinelli D; U.O.C. Patologia Metabolica, Ospedale Pediatrico Bambino Gésu, Rome, Italy., Matsumoto S; Department of Pediatrics, Kumamoto University Hospital, Kumamoto City, Japan., Mühlhausen C; Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany., de Baulny HO; Hôpital Robert Debré, Université de Paris, Paris, France., Ortez C; Servicio de Neurologia and CIBERER, ISCIII, Hospital San Joan de Deu, Barcelona, Spain., Peña-Quintana L; 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., Ramadža DP; University Hospital Center Zagreb, Zagreb, Croatia., Rodrigues E; Unidade de Doenças Metabólicas, Serviço de Pediatria, Hospital de S. João, EPE, Porto, Portugal., Scholl-Bürgi S; Clinic for Pediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria., Sokal E; Service Gastroentérologie and Hépatologie Pédiatrique, Cliniques Universitaires St Luc, Université Catholique de Louvain, Bruxelles, Belgium., Staufner C; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany., Summar ML; Children's National Medical Center, 111 Michigan Avenue, N.W., Washington, DC, 20010, USA., Thompson N; Metabolic Unit Great Ormond Street Hospital and Institute for Child Health, University College London, London, UK., Vara R; Evelina Children's Hospital, St Thomas' Hospital, London, UK., Pinera IV; Inborn Metabolic Disease Unit, Hospital Virgen de la Arrixaca de Murcia, El Palmar, Spain., Walter JH; Manchester Academic Health Science Centre, Willink Biochemical Genetics Unit, Genetic Medicine, University of Manchester, Manchester, UK., Williams M; Erasmus MC-Sophia Kinderziekenhuis, Erasmus Universiteit Rotterdam, Rotterdam, Netherlands., Burgard P; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2015 Nov; Vol. 38 (6), pp. 1155-6.
Autor:
Kölker S; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany. Stefan_Koelker@med.uni-heidelberg.de., Valayannopoulos V; 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., Burlina AB; Azienda Ospedaliera di Padova, U.O.C. Malattie Metaboliche Ereditarie, Padova, Italy., Sykut-Cegielska J; Screening Department, Institute of Mother and Child, Warsaw, Poland., Wijburg FA; Department of Pediatrics, Academisch Medisch Centrum, Amsterdam, Netherlands., Teles EL; Unidade de Doenças Metabólicas, Serviço de Pediatria, Hospital de S. João, EPE, Porto, Portugal., Zeman J; First Faculty of Medicine Charles University and General University of Prague, Prague, Czech Republic., Dionisi-Vici C; Ospedale Pediatrico Bambino Gésu, U.O.C. Patologia Metabolica, Rome, Italy., Barić I; School of Medicine University Hospital Center Zagreb and University of Zagreb, Zagreb, Croatia., Karall D; Medical University of Innsbruck, Clinic for Pediatrics I, Inherited Metabolic Disorders, Innsbruck, Austria., Arnoux JB; 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., Avram P; Institute of Mother and Child Care 'Alfred Rusescu', Bucharest, Romania., Baumgartner MR; Division of Metabolism and Children's Research Centre, University Children's Hospital Zurich, Steinwiesstraße 75, 8032, Zurich, Switzerland., Blasco-Alonso J; Hospital Materno-Infantil (HRU Carlos Haya), Málaga, Spain., Boy SP; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany., Rasmussen MB; Centre for Inherited Metabolic Diseases, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Burgard P; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany., Chabrol B; Centre de Référence des Maladies Héréditaires du Métabolisme, Service de Neurologie, Hôpital d'Enfants, CHU Timone, Marseilles, France., Chakrapani A; Birmingham Children's Hospital NHS Foundation Trust, Steelhouse Lane, Birmingham, B4 6NH, UK., Chapman K; Children's National Medical Center, 111 Michigan Avenue, N.W., Washington, DC, 20010, USA., Cortès I Saladelafont E; Hospital San Joan de Deu, Servicio de Neurologia and CIBERER, ISCIII, Barcelona, Spain., Couce ML; Metabolic Unit, Department of Pediatrics, Hospital Clinico Universitario de Santiago de Compostela, Santiago de Compostela, Spain., de Meirleir L; University Hospital Vrije Universiteit Brussel, Bruxelles, Belgium., Dobbelaere D; Centre de Référence des Maladies Héréditaires du Métabolisme de l'Enfant et de l'Adulte, Hôpital Jeanne de Flandre, Lille, France., Furlan F; Azienda Ospedaliera di Padova, U.O.C. Malattie Metaboliche Ereditarie, Padova, Italy., Gleich F; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany., González MJ; Hospital San Joan de Deu, Servicio de Neurologia and CIBERER, ISCIII, Barcelona, Spain., Gradowska W; Department of Laboratory Diagnostics, The Children's Memorial Health Institute, Warsaw, Poland., Grünewald S; Metabolic Unit Great Ormond Street Hospital and Institute for Child Health, University College London, London, UK., Honzik T; First Faculty of Medicine Charles University and General University of Prague, Prague, Czech Republic., Hörster F; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany., Ioannou H; 1st Pediatric Department, Metabolic Laboratory, General Hospital of Thessaloniki 'Hippocration', Thessaloniki, Greece., Jalan A; N.I.R.M.A.N., Om Rachna Society, Vashi, Navi Mumbai, Mumbai, India., Häberle J; Division of Metabolism and Children's Research Centre, University Children's Hospital Zurich, Steinwiesstraße 75, 8032, Zurich, Switzerland., Haege G; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany., Langereis E; Department of Pediatrics, Academisch Medisch Centrum, Amsterdam, Netherlands., de Lonlay P; 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., Martinelli D; Ospedale Pediatrico Bambino Gésu, U.O.C. Patologia Metabolica, Rome, Italy., Matsumoto S; Department of Pediatrics, Kumamoto University Hospital, Kumamoto City, Japan., Mühlhausen C; Universitätsklinikum Hamburg-Eppendorf, Klinik für Kinder- und Jugendmedizin, Hamburg, Germany., Murphy E; National Hospital for Neurology and Neurosurgery, Charles Dent Metabolic Unit, London, UK., de Baulny HO; Hôpital Robert Debré, Université de Paris, Paris, France., Ortez C; Hospital San Joan de Deu, Servicio de Neurologia and CIBERER, ISCIII, Barcelona, Spain., Pedrón CC; Department of Pediatrics, Metabolic Diseases Unit, Hospital Infantil Universitario Niño Jesús, Madrid, Spain., Pintos-Morell G; Department of Pediatrics, Hospital Universitari Germans Trias I Pujol, Badalona, Spain., Pena-Quintana L; University Hospital Center Zagreb, Zagreb, Croatia., Ramadža DP; University Hospital Center Zagreb, Zagreb, Croatia., Rodrigues E; Unidade de Doenças Metabólicas, Serviço de Pediatria, Hospital de S. João, EPE, Porto, Portugal., Scholl-Bürgi S; Medical University of Innsbruck, Clinic for Pediatrics I, Inherited Metabolic Disorders, Innsbruck, Austria., Sokal E; Cliniques Universitaires St Luc, Université Catholique de Louvain, Service Gastroentérologie and Hépatologie Pédiatrique, Bruxelles, Belgium., Summar ML; Children's National Medical Center, 111 Michigan Avenue, N.W., Washington, DC, 20010, USA., Thompson N; Metabolic Unit Great Ormond Street Hospital and Institute for Child Health, University College London, London, UK., Vara R; Evelina Children's Hospital, St Thomas' Hospital, London, United Kingdom., Pinera IV; Hospital Virgen de la Arrixaca de Murcia, Inborn Metabolic Disease Unit, El Palmar, Spain., Walter JH; Manchester Academic Health Science Centre, University of Manchester, Willink Biochemical Genetics Unit, Genetic Medicine, Manchester, UK., Williams M; Erasmus MC-Sophia Kinderziekenhuis, Erasmus Universiteit Rotterdam, Rotterdam, Netherlands., Lund AM; Centre for Inherited Metabolic Diseases, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Cazorla AG; Hospital San Joan de Deu, Servicio de Neurologia and CIBERER, ISCIII, Barcelona, Spain.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2015 Nov; Vol. 38 (6), pp. 1157-8.
Autor:
Kölker S; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany. Stefan_Koelker@med.uni-heidelberg.de., Valayannopoulos V; 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., Burlina AB; Azienda Ospedaliera di Padova, U.O.C. Malattie Metaboliche Ereditarie, Padova, Italy., Sykut-Cegielska J; Screening Department, Institute of Mother and Child, Warsaw, Poland., Wijburg FA; Department of Pediatrics, Academisch Medisch Centrum, Amsterdam, Netherlands., Teles EL; Unidade de Doenças Metabólicas, Serviço de Pediatria, Hospital de S. João, EPE, Porto, Portugal., Zeman J; First Faculty of Medicine Charles University and General University of Prague, Prague, Czech Republic., Dionisi-Vici C; Ospedale Pediatrico Bambino Gésu, U.O.C. Patologia Metabolica, Rome, Italy., Barić I; School of Medicine University Hospital Center Zagreb and University of Zagreb, Zagreb, Croatia., Karall D; Medical University of Innsbruck, Clinic for Pediatrics I, Inherited Metabolic Disorders, Innsbruck, Austria., Arnoux JB; 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., Avram P; Institute of Mother and Child Care 'Alfred Rusescu', Bucharest, Romania., Baumgartner MR; Division of Metabolism and Children's Research Centre, University Children's Hospital Zurich, Steinwiesstraße 75, 8032, Zurich, Switzerland., Blasco-Alonso J; Hospital Materno-Infantil (HRU Carlos Haya), Málaga, Spain., Boy SP; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany., Rasmussen MB; Centre for Inherited Metabolic Diseases, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Burgard P; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany., Chabrol B; Centre de Référence des Maladies Héréditaires du Métabolisme, Service de Neurologie, Hôpital d'Enfants, CHU Timone, Marseilles, France., Chakrapani A; Birmingham Children's Hospital NHS Foundation Trust, Steelhouse Lane, Birmingham, B4 6NH, UK., Chapman K; Children's National Medical Center, 111 Michigan Avenue, N.W., Washington, DC, 20010, USA., Cortès I Saladelafont E; Hospital San Joan de Deu, Servicio de Neurologia and CIBERER, ISCIII, Barcelona, Spain., Couce ML; Metabolic Unit, Department of Pediatrics, Hospital Clinico Universitario de Santiago de Compostela, Santiago de Compostela, Spain., de Meirleir L; University Hospital Vrije Universiteit Brussel, Bruxelles, Belgium., Dobbelaere D; Centre de Référence des Maladies Héréditaires du Métabolisme de l'Enfant et de l'Adulte, Hôpital Jeanne de Flandre, Lille, France., Furlan F; Azienda Ospedaliera di Padova, U.O.C. Malattie Metaboliche Ereditarie, Padova, Italy., Gleich F; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany., González MJ; Hospital San Joan de Deu, Servicio de Neurologia and CIBERER, ISCIII, Barcelona, Spain., Gradowska W; Department of Laboratory Diagnostics, The Children's Memorial Health Institute, Warsaw, Poland., Grünewald S; Metabolic Unit Great Ormond Street Hospital and Institute for Child Health, University College London, London, UK., Honzik T; First Faculty of Medicine Charles University and General University of Prague, Prague, Czech Republic., Hörster F; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany., Ioannou H; 1st Pediatric Department, Metabolic Laboratory, General Hospital of Thessaloniki 'Hippocration', Thessaloniki, Greece., Jalan A; N.I.R.M.A.N., Om Rachna Society, Vashi, Navi Mumbai, Mumbai, India., Häberle J; Division of Metabolism and Children's Research Centre, University Children's Hospital Zurich, Steinwiesstraße 75, 8032, Zurich, Switzerland., Haege G; Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany., Langereis E; Department of Pediatrics, Academisch Medisch Centrum, Amsterdam, Netherlands., de Lonlay P; 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., Martinelli D; Ospedale Pediatrico Bambino Gésu, U.O.C. Patologia Metabolica, Rome, Italy., Matsumoto S; Department of Pediatrics, Kumamoto University Hospital, Kumamoto City, Japan., Mühlhausen C; Universitätsklinikum Hamburg-Eppendorf, Klinik für Kinder- und Jugendmedizin, Hamburg, Germany., Murphy E; National Hospital for Neurology and Neurosurgery, Charles Dent Metabolic Unit, London, UK., de Baulny HO; Hôpital Robert Debré, Université de Paris, Paris, France., Ortez C; Hospital San Joan de Deu, Servicio de Neurologia and CIBERER, ISCIII, Barcelona, Spain., Pedrón CC; Department of Pediatrics, Metabolic Diseases Unit, Hospital Infantil Universitario Niño Jesús, Madrid, Spain., Pintos-Morell G; Department of Pediatrics, Hospital Universitari Germans Trias I Pujol, Badalona, Spain., Pena-Quintana L; University Hospital Center Zagreb, Zagreb, Croatia., Ramadža DP; University Hospital Center Zagreb, Zagreb, Croatia., Rodrigues E; Unidade de Doenças Metabólicas, Serviço de Pediatria, Hospital de S. João, EPE, Porto, Portugal., Scholl-Bürgi S; Medical University of Innsbruck, Clinic for Pediatrics I, Inherited Metabolic Disorders, Innsbruck, Austria., Sokal E; Cliniques Universitaires St Luc, Université Catholique de Louvain, Service Gastroentérologie and Hépatologie Pédiatrique, Bruxelles, Belgium., Summar ML; Children's National Medical Center, 111 Michigan Avenue, N.W., Washington, DC, 20010, USA., Thompson N; Metabolic Unit Great Ormond Street Hospital and Institute for Child Health, University College London, London, UK., Vara R; Evelina Children's Hospital, St Thomas' Hospital, London, United Kingdom., Pinera IV; Hospital Virgen de la Arrixaca de Murcia, Inborn Metabolic Disease Unit, El Palmar, Spain., Walter JH; Manchester Academic Health Science Centre, University of Manchester, Willink Biochemical Genetics Unit, Genetic Medicine, Manchester, UK., Williams M; Erasmus MC-Sophia Kinderziekenhuis, Erasmus Universiteit Rotterdam, Rotterdam, Netherlands., Lund AM; Centre for Inherited Metabolic Diseases, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., Garcia-Cazorla A; Hospital San Joan de Deu, Servicio de Neurologia and CIBERER, ISCIII, Barcelona, Spain.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2015 Nov; Vol. 38 (6), pp. 1059-74. Date of Electronic Publication: 2015 Apr 15.