Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Scholl-Bürgi, Sabine"'
Autor:
Boy N; Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany., Mühlhausen C; Department of Paediatrics and Adolescent Medicine, University Medical Centre, Göttingen, Germany., Maier EM; Dr von Hauner Children's Hospital, Ludwig-Maximilians-University of Munich, University of Munich Medical Centre, Munich, Germany., Ballhausen D; Paediatric Metabolic Unit, Paediatrics, Woman-Mother-Child Department, Lausanne University Hospital and University of Lausanne, Switzerland., Baumgartner MR; Division of Metabolism and Children's Research Centre, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland., Beblo S; Department of Women and Child Health, Hospital for Children and Adolescents, Centre for Paediatric Research Leipzig (CPL), University Hospitals, University of Leipzig, Leipzig, Germany., Burgard P; Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany., Chapman KA; Rare Disease Institute, Children's National Health System, Washington, District of Columbia, USA., Dobbelaere D; Department of Paediatric Metabolism, Reference Centre of Inherited Metabolic Disorders, Jeanne de Flandre Hospital, Lille, France., Heringer-Seifert J; Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany., Fleissner S; Dr von Hauner Children's Hospital, Ludwig-Maximilians-University of Munich, University of Munich Medical Centre, Munich, Germany., Grohmann-Held K; Centre for Child and Adolescent Medicine, University Hospital Greifswald, Greifswald, Germany., Hahn G; Department of Radiological Diagnostics, UMC, University of Dresden, Dresden, Germany., Harting I; Department of Neuroradiology, University Hospital Heidelberg, Heidelberg, Germany., Hoffmann GF; Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany., Jochum F; Evangelisches Waldkrankenhaus Spandau, Berlin, Germany., Karall D; Clinic for Paediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria., Konstantopoulous V; Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria., Krawinkel MB; Institute of Nutritional Science, Justus Liebig University Giessen, Giessen, Germany., Lindner M; Division of Metabolic Diseases, University Children's Hospital Frankfurt, Frankfurt, Germany., Märtner EMC; Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany., Nuoffer JM; University Institute of Clinical Chemistry, University of Bern, Bern, Switzerland., Okun JG; Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany., Plecko B; Department of Paediatrics and Adolescent Medicine, Division of General Paediatrics, University Children's Hospital Graz, Medical University Graz, Graz, Austria., Posset R; Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany., Sahm K; Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany., Scholl-Bürgi S; Evangelisches Waldkrankenhaus Spandau, Berlin, Germany., Thimm E; Division of Experimental Paediatrics and Metabolism, Department of General Paediatrics, Neonatology and Paediatric Cardiology, University Children's Hospital, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Walter M; Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany., Williams M; Department of Paediatrics, Centre for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Centre, Rotterdam, The Netherlands., Vom Dahl S; Department of Gastroenterology, Hepatology and Infectious Diseases, University Hospital, University of Düsseldorf, Düsseldorf, Germany., Ziagaki A; Centre of Excellence for Rare Metabolic Diseases, Interdisciplinary Centre of Metabolism: Endocrinology, Diabetes and Metabolism, University-Medicine Berlin, Berlin, Germany., Zschocke J; Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria., Kölker S; Centre for Child and Adolescent Medicine, Department of General Paediatrics, Division of Neuropaediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2023 May; Vol. 46 (3), pp. 482-519. Date of Electronic Publication: 2022 Nov 17.
Autor:
Forny P; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland., Hörster F; Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany., Ballhausen D; Paediatric Unit for Metabolic Diseases, Department of Woman-Mother-Child, University Hospital Lausanne, Lausanne, Switzerland., Chakrapani A; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust and Institute for Child Health, NIHR Biomedical Research Center (BRC), University College London, London, UK., Chapman KA; Rare Disease Institute, Children's National Health System, Washington, District of Columbia, USA., Dionisi-Vici C; Division of Metabolism, Department of Pediatric Specialties, Bambino Gesù Children's Hospital, Rome, Italy., Dixon M; Dietetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Grünert SC; Department of General Paediatrics, Adolescent Medicine and Neonatology, Medical Centre-University of Freiburg, Faculty of Medicine, Freiburg, Germany., Grunewald S; Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust and Institute for Child Health, NIHR Biomedical Research Center (BRC), University College London, London, UK., Haliloglu G; Department of Pediatrics, Division of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey., Hochuli M; Department of Diabetes, Endocrinology, Nutritional Medicine and Metabolism, Inselspital, Bern University Hospital and University of Bern, Bern, Switzerland., Honzik T; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Karall D; Department of Paediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria., Martinelli D; Division of Metabolism, Department of Pediatric Specialties, Bambino Gesù Children's Hospital, Rome, Italy., Molema F; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Sass JO; Department of Natural Sciences & Institute for Functional Gene Analytics (IFGA), Bonn-Rhein Sieg University of Applied Sciences, Rheinbach, Germany., Scholl-Bürgi S; Department of Paediatrics I, Inherited Metabolic Disorders, Medical University of Innsbruck, Innsbruck, Austria., Tal G; Metabolic Unit, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel., Williams M; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Huemer M; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.; Department of Paediatrics, Landeskrankenhaus Bregenz, Bregenz, Austria., Baumgartner MR; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 May; Vol. 44 (3), pp. 566-592. Date of Electronic Publication: 2021 Mar 09.
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:
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, 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.
Autor:
Chien YH; Department of Medical Genetics and Pediatrics, National Taiwan University Hospital, Children's Hospital Building, Taipei, Taiwan., Abdenur JE; Division of Metabolic Disorders, CHOC Children's, Orange, CA, USA., Baronio F; Newborn Screening and Inborn Errors of Metabolism Regional Centre, Pediatric Endocrinology Program, Pediatric Unit, S.Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy., Bannick AA; Children's Hospital of Michigan Metabolic Clinic, Detroit Medical Center, Detroit, MI, USA., Corrales F; Department of Hepatology, Proteomics laboratory, Center for Applied Medical Research (CIMA), University of Navarra, IdiSNA, Pamplona, Spain., Couce M; Head of Metabolic Unit, Department Pediatrics, Hospital Clínico Universitario de Santiago, Santiago de Compostela, Spain., Donner MG; Department of Gastroenterology, Hepatology and Infectious Diseases, Heinrich Heine University Düsseldorf, Düsseldorf, Germany., Ficicioglu C; The Children's Hospital of Philadelphia, Division of Metabolism, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Freehauf C; Department of Pediatrics, University of Colorado, Aurora, CO, USA., Frithiof D; Department of Clinical Sciences, Pediatrics Umeå University, SE 901 85, Umeå, Sweden., Gotway G; Department of Pediatrics, Division of Genetics and Metabolism; Department of Internal Medicine, Division of Clinical Genetics; and McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX, USA., Hirabayashi K; Department of Pediatrics, Shinshu University School of Medicine, 3-1-1, Asahi, Matsumoto, Japan., Hofstede F; Division of Paediatrics, Department of Metabolic Diseases, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands., Hoganson G; Department of Pediatrics, University of Illinois at Chicago, College of Medicine, Chicago, Il, USA., Hwu WL; Department of Medical Genetics and Pediatrics, National Taiwan University Hospital, Children's Hospital Building, Taipei, Taiwan., James P; Children's Hospital Boston, Harvard Medical School, Boston, USA., Kim S; KSZ Children's Hospital/Korea Genetics Research Center, Jikjidaero, Heung Duck Gu, Cheng Ju City, Chung Buk, Republic of Korea., Korman SH; Department of Genetics and Department of Metabolic Diseases, Hebrew University, Hadassah Medical Center, Jerusalem, Israel., Lachmann R; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, London, UK., Levy H; Children's Hospital Boston, Harvard Medical School, Boston, USA., Lindner M; Department of General Pediatrics, Division of Pediatric Metabolic Medicine and Neuropediatrics, University Hospital Heidelberg, Heidelberg, Germany.; Department of Neurology, University Children's Hospital Frankfurt, Frankfurt, Germany., Lykopoulou L; First Department of Pediatrics, University of Athens, Agia Sofia Children's Hospital, Athens, Greece., Mayatepek E; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital Duesseldorf, Duesseldorf, Germany., Muntau A; University Children's Hospital, University Medical Center Hamburg Eppendorf, Hamburg, Germany., Okano Y; Department of Genetics, Hyogo College of Medicine, 1-1 Mukogawa-cho, Nishinomiya, Japan., Raymond K; Department of Medicine and Pathology, Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, MN, USA., Rubio-Gozalbo E; Department of Pediatrics and Laboratory Genetic Metabolic Diseases, Maastricht University Medical Center, Maastricht, Netherlands., Scholl-Bürgi S; Medical University of Innsbruck, Clinic for Pediatrics, Inherited Metabolic Disorders, Innsbruck, Austria., Schulze A; Genetics and Genome Biology, Peter Gilgan Center for Research and Learning The Hospital for Sick Children, Toronto, ON, Canada., Singh R; Department of Human Genetics and Pediatric, Emory University, Atlanta, GA, USA., Stabler S; Department of Medicine, University of Colorado School of Medicine, Aurora, CO, USA., Stuy M; Department of Medical and Molecular Genetics Indiana University School of Medicine, Indianapolis, IN, USA., Thomas J; Department of Pediatrics, University of Colorado, Aurora, CO, USA., Wagner C; Department of Biochemistry, Vanderbilt University School of Medicine, Nashville, Tn, USA., Wilson WG; Division of Genetics, University of Virginia School of Medicine, Charlottesville, VA, USA., Wortmann S; Nijmegen Centre for Mitochondrial Disorders (NCMD), RadboudUMC, Amalia Children's Hospital, Nijmegen, The Netherlands., Yamamoto S; Department of Pediatrics, National Shimoshizu Hospital, Chiba, Japan., Pao M; Laboratory of Molecular Biology, National Institute of Mental Health, Bethesda, MD, USA., Blom HJ; Laboratory for Clinical Biochemistry and Metabolism, Center for Pediatrics and Adolescent Medicine University Hospital Freiburg, 79106, Freiburg, Germany. henk.blom@uniklinik-freiburg.de.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2015 Aug 20; Vol. 10, pp. 99. Date of Electronic Publication: 2015 Aug 20.
Autor:
Huemer M; Division of Metabolic Diseases and Children's Research Center, University Children's Hospital Zürich, Zürich, Switzerland. martina.huemer@kispi.uzh.ch.; Radiz - Rare Disease Initiative Zürich, University Zürich, Zürich, Switzerland. martina.huemer@kispi.uzh.ch.; Department of Pediatrics, LKH Bregenz, Bregenz, Austria. martina.huemer@kispi.uzh.ch., Scholl-Bürgi S; Clinic for Pediatrics I; Inherited Metabolic Disorders, Innsbruck Medical University, Innsbruck, Austria. sabine.scholl-buergi@uki.at., Hadaya K; Divisions of Nephrology and Transplantation, Geneva University Hospitals, Geneva, Switzerland. Karine.Hadaya@hcuge.ch., Kern I; Pediatric Nephrology & Metabolism, Children's Hospital, University of Geneva, Geneva, Switzerland. ilse.kern@hcuge.ch., Beer R; Department of Neurology, Innsbruck Medical University, Innsbruck, Austria. Ronny.Beer@i-med.ac.at., Seppi K; Department of Neurology, Innsbruck Medical University, Innsbruck, Austria. Klaus.Seppi@i-med.ac.at., Fowler B; Division of Metabolic Diseases and Children's Research Center, University Children's Hospital Zürich, Zürich, Switzerland. Brian.fowler@kispi.uzh.ch., Baumgartner MR; Division of Metabolic Diseases and Children's Research Center, University Children's Hospital Zürich, Zürich, Switzerland. Matthias.baumgartner@kispi.uzh.ch.; Radiz - Rare Disease Initiative Zürich, University Zürich, Zürich, Switzerland. Matthias.baumgartner@kispi.uzh.ch., Karall D; Clinic for Pediatrics I; Inherited Metabolic Disorders, Innsbruck Medical University, Innsbruck, Austria. daniela.karall@i-med.ac.at.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2014 Nov 15; Vol. 9, pp. 161. Date of Electronic Publication: 2014 Nov 15.
Autor:
Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A, Fowler B, Grünert SC, Grünewald S, Honzik T, Merinero B, Pérez-Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani A
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2014 Sep 02; Vol. 9, pp. 130. Date of Electronic Publication: 2014 Sep 02.
Autor:
Scholl-Bürgi S; Department of Paediatrics IV, Division of Neonatology, Neuropaediatrics and Inherited Metabolic Disorders, Innsbruck Medical University, Anichstrasse 35, 6020 Innsbruck, Austria. sabine.scholl-buergi@uki.at, Sass JO, Zschocke J, Karall D
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2012 Jan; Vol. 35 (1), pp. 65-70. Date of Electronic Publication: 2010 Nov 27.
Autor:
Baumgartner D; Clinical Department of Pediatric Cardiology, Innsbruck Medical University, Innsbruck, Austria., Scholl-Bürgi S, Sass JO, Sperl W, Schweigmann U, Stein JI, Karall D
Publikováno v:
The Journal of pediatrics [J Pediatr] 2007 Feb; Vol. 150 (2), pp. 192-7, 197.e1.