학술논문

발행년
-
(예 : 2010-2015)
'학술논문' 에서 검색결과 276건 | 목록 170~180
Academic Journal
Valayannopoulos V; Reference Centre for Inherited Metabolic Disorders (MaMEA) and IMAGINE Institiute, Necker-Enfants Malades Hospital, 149 Rue de Sevres, 75743, Paris, Cedex 15, France. vassili.valaya@nck.aphp.fr.; Baruteau J; Reference Center for Metabolic Diseases, Pediatric Neurology & Metabolic diseases, Robert Debre University Hospital, Paris, France.; Delgado MB; Unidad de Nutrición y Metabolismo, Hospital Infantil Sevilla, Sevilla, Spain.; Cano A; Centre de Référence des Maladies Héréditaires du Métabolisme, CHU Timone Enfants, Marseille, France.; Couce ML; Complejo Hospitalario Universitario de Santiago de Compostela (CHUS), Santiago de Compostela, Spain.; Del Toro M; Servicio de Neurologíia Infantil, Hospital Vall d'Hebrón, Barcelona, Spain.; Donati MA; Reference Center for Inherited Metabolic and Muscular Disease AOU, Meyer, Firenze, Italy.; Garcia-Cazorla A; Hospital Sant Joan de Déu and CIBER-ER, Instituto de Salud Carlos III, Barcelona, Spain.; Gil-Ortega D; Hospital Universitario Virgen de la Arrixaca, Murcia, Spain.; Gomez-de Quero P; Hospital Clínico Universitario de Salamanca, UCI Pediátricia, Salamanca, Spain.; Guffon N; Reference Centre of Inherited Metabolic Disorders, Femme Mère Enfant Hospital, Lyon, France.; Hofstede FC; Department of Metabolic Diseases, Wilhelmina Children's Hospital, Utrecht, The Netherlands.; Kalkan-Ucar S; Department of Pediatric Metabolism and Nutrition, Ege University Medical Faculty, Izmir, Turkey.; Coker M; Department of Pediatric Metabolism and Nutrition, Ege University Medical Faculty, Izmir, Turkey.; Lama-More R; Hospital Infantil Universitario La Paz, Madrid, Spain.; Martinez-Pardo Casanova M; Unidad Enfermedades Metabólicas Servicio de Pediatria, Hospital Universitario Ramón Y Cajal Ctra, Madrid, Spain.; Molina A; Unidad de Cuidados Intensivos Pediáticos, Hospital Clinic Universitario de Valencia, UCI Neonatal, Valencia, Spain.; Pichard S; Reference Center for Metabolic Diseases, Pediatric Neurology & Metabolic diseases, Robert Debre University Hospital, Paris, France.; Papadia F; UOC of Metabolic and Genetic Diseases, Children's Hospital Giovanni XXIII, Bari, Italy.; Rosello P; Unidad de Cuidados Intensivos Pediáticos, Hospital Clinic Universitario de Valencia, UCI Neonatal, Valencia, Spain.; Plisson C; Medical Affairs, Orphan Europe, Paris, France.; Le Mouhaer J; Medical Affairs, Orphan Europe, Paris, France.; Chakrapani A; Reference Center for Metabolic Diseases, Pediatric Neurology & Metabolic diseases, Robert Debre University Hospital, Paris, France.
Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
Academic Journal
Sánchez-Pintos P; a Department of Pediatrics , Hospital da Barbanza , Ribeira , Spain .; Pérez-Muñuzuri A; b Neonatal Unit, Department of Pediatrics , Complexo Hospitalario Universitario de Santiago de Compostela , Santiago de Compostela , Spain .; Cocho JÁ; c Diagnosis and Treatment Unit of Metabolic Diseases , Complexo Hospitalario Universitario de Santiago de Compostela , Santiago de Compostela , Spain , and.; Fernández-Lorenzo JR; d Department of Pediatrics , Complexo Universitario de Vigo , Vigo , Spain.; Fraga JM; b Neonatal Unit, Department of Pediatrics , Complexo Hospitalario Universitario de Santiago de Compostela , Santiago de Compostela , Spain .; c Diagnosis and Treatment Unit of Metabolic Diseases , Complexo Hospitalario Universitario de Santiago de Compostela , Santiago de Compostela , Spain , and.; Couce ML; b Neonatal Unit, Department of Pediatrics , Complexo Hospitalario Universitario de Santiago de Compostela , Santiago de Compostela , Spain .; c Diagnosis and Treatment Unit of Metabolic Diseases , Complexo Hospitalario Universitario de Santiago de Compostela , Santiago de Compostela , Spain , and.
Publisher: Informa Healthcare Country of Publication: England NLM ID: 101136916 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4954 (Electronic) Linking ISSN: 14764954 NLM ISO Abbreviation: J Matern Fetal Neonatal Med Subsets: MEDLINE
Academic Journal
Gamo AM; Departamento de Química Orgánica I, Facultad de Ciencias Químicas, Universidad Complutense de Madrid, 28040, Madrid, Spain.; González-Vera JA; Departamento de Química Orgánica I, Facultad de Ciencias Químicas, Universidad Complutense de Madrid, 28040, Madrid, Spain.; Rueda-Zubiaurre A; Departamento de Química Orgánica I, Facultad de Ciencias Químicas, Universidad Complutense de Madrid, 28040, Madrid, Spain.; Alonso D; Departamento de Química Orgánica I, Facultad de Ciencias Químicas, Universidad Complutense de Madrid, 28040, Madrid, Spain.; Vázquez-Villa H; Departamento de Química Orgánica I, Facultad de Ciencias Químicas, Universidad Complutense de Madrid, 28040, Madrid, Spain.; Martín-Couce L; Departamento de Química Orgánica I, Facultad de Ciencias Químicas, Universidad Complutense de Madrid, 28040, Madrid, Spain.; Palomares Ó; Departamento de Bioquímica y Biología Molecular I, Facultad de Ciencias Químicas, Universidad Complutense de Madrid, 28040, Madrid, Spain.; López JA; Proteomics Unit, Centro Nacional de Investigaciones Cardiovasculares, CNIC, 28029, Madrid, Spain.; Martín-Fontecha M; Departamento de Química Orgánica I, Facultad de Ciencias Químicas, Universidad Complutense de Madrid, 28040, Madrid, Spain.; Benhamú B; Departamento de Química Orgánica I, Facultad de Ciencias Químicas, Universidad Complutense de Madrid, 28040, Madrid, Spain.; López-Rodríguez ML; Departamento de Química Orgánica I, Facultad de Ciencias Químicas, Universidad Complutense de Madrid, 28040, Madrid, Spain. mluzlr@ucm.es.; Ortega-Gutiérrez S; Departamento de Química Orgánica I, Facultad de Ciencias Químicas, Universidad Complutense de Madrid, 28040, Madrid, Spain. siortega@quim.ucm.es.
Publisher: Wiley-VCH Country of Publication: Germany NLM ID: 9513783 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1521-3765 (Electronic) Linking ISSN: 09476539 NLM ISO Abbreviation: Chemistry Subsets: MEDLINE
Academic Journal
Pérez-Mato M; Clinical Neurosciences Research Laboratory, Clinical University Hospital, Health Research Institute of Santiago de Compostela (IDIS), University of Santiago de Compostela, Santiago de Compostela, A Coruña, Spain.; Iglesias-Deus A; Neonatology Unit, Department of Pediatrics, Hospital Clinico Universitario de Santiago, Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, A Coruña, Spain.; Rujido S; Neonatology Unit, Department of Pediatrics, Hospital Clinico Universitario de Santiago, Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, A Coruña, Spain.; da Silva-Candal A; Clinical Neurosciences Research Laboratory, Clinical University Hospital, Health Research Institute of Santiago de Compostela (IDIS), University of Santiago de Compostela, Santiago de Compostela, A Coruña, Spain.; Sobrino T; Clinical Neurosciences Research Laboratory, Clinical University Hospital, Health Research Institute of Santiago de Compostela (IDIS), University of Santiago de Compostela, Santiago de Compostela, A Coruña, Spain.; Couce ML; Neonatology Unit, Department of Pediatrics, Hospital Clinico Universitario de Santiago, Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, A Coruña, Spain.; Fraga JM; Neonatology Unit, Department of Pediatrics, Hospital Clinico Universitario de Santiago, Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, A Coruña, Spain.; Castillo J; Clinical Neurosciences Research Laboratory, Clinical University Hospital, Health Research Institute of Santiago de Compostela (IDIS), University of Santiago de Compostela, Santiago de Compostela, A Coruña, Spain.; Campos F; Clinical Neurosciences Research Laboratory, Clinical University Hospital, Health Research Institute of Santiago de Compostela (IDIS), University of Santiago de Compostela, Santiago de Compostela, A Coruña, Spain.
Publisher: Blackwell Country of Publication: England NLM ID: 0006761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-8749 (Electronic) Linking ISSN: 00121622 NLM ISO Abbreviation: Dev Med Child Neurol Subsets: MEDLINE
Academic Journal
Emperador S; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, Zaragoza, Spain.; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Instituto de Investigación Sanitaria de Aragón (IIS Aragón), Universidad de Zaragoza, Zaragoza, Spain.; Bayona-Bafaluy MP; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, Zaragoza, Spain.; Instituto de Investigación Sanitaria de Aragón (IIS Aragón), Universidad de Zaragoza, Zaragoza, Spain.; Fernández-Marmiesse A; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Departamento de Pediatría, Hospital Clínico Universitario de Santiago de Compostela, Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Santiago de Compostela, Spain.; Pineda M; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Departamento de Neuropediatría, Hospital San Joan de Deu, Institut de Recerca Pediàtrica (IRP-HSJD), Barcelona, Spain.; Felgueroso B; Departamento de Neurología Pediátrica, Hospital Materno Infantil Teresa Herrera, A Coruña, Spain.; López-Gallardo E; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, Zaragoza, Spain.; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Instituto de Investigación Sanitaria de Aragón (IIS Aragón), Universidad de Zaragoza, Zaragoza, Spain.; Artuch R; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Departamento de Neuropediatría, Hospital San Joan de Deu, Institut de Recerca Pediàtrica (IRP-HSJD), Barcelona, Spain.; Roca I; Departamento de Pediatría, Hospital Clínico Universitario de Santiago de Compostela, Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Santiago de Compostela, Spain.; Ruiz-Pesini E; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, Zaragoza, Spain.; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Instituto de Investigación Sanitaria de Aragón (IIS Aragón), Universidad de Zaragoza, Zaragoza, Spain.; Fundación ARAID, Universidad de Zaragoza, Zaragoza, Spain.; Couce ML; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Departamento de Pediatría, Hospital Clínico Universitario de Santiago de Compostela, Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Santiago de Compostela, Spain.; Montoya J; Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, Zaragoza, Spain. jmontoya@unizar.es.; Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER), Madrid, Spain. jmontoya@unizar.es.; Instituto de Investigación Sanitaria de Aragón (IIS Aragón), Universidad de Zaragoza, Zaragoza, Spain. jmontoya@unizar.es.
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
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.
Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: PubMed not MEDLINE
Academic Journal
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.
Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE
Academic Journal
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.
Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE
Academic Journal
Couce ML; Metabolic Unit, Servei of Neonatology, Department of Pediatrics, Hospital Clínico Universitario de Santiago, IDIS, CIBERER, ISCIII, Santiago de Compostela, Spain. Electronic address: maria.luz.couce.pico@sergas.es.; Ramos F; Department of Neurology, Neurometabolic Unit, Hospital Sant Joan de Déu, and CIBERER, ISCIII, Barcelona, Spain.; Bueno MA; Metabolic and Dismorphology Unit, Department of Pediatrics, Hospital Universitario Virgen del Rocío, Sevilla, Spain.; Díaz J; Gastroenterolgy, Nutrition and Metabolic Unit, Hospital Central de Asturias, Spain.; Meavilla S; Department of Gastroenterology and Nutrition, Metabolic Unit, Hospital Sant Joan de Déu, Barcelona, Spain.; Bóveda MD; Metabolic Unit, Servei of Neonatology, Department of Pediatrics, Hospital Clínico Universitario de Santiago, IDIS, CIBERER, ISCIII, Santiago de Compostela, Spain.; Fernández-Marmiesse A; Metabolic Unit, Servei of Neonatology, Department of Pediatrics, Hospital Clínico Universitario de Santiago, IDIS, CIBERER, ISCIII, Santiago de Compostela, Spain.; García-Cazorla A; Department of Neurology, Neurometabolic Unit, Hospital Sant Joan de Déu, and CIBERER, ISCIII, Barcelona, Spain.
Publisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2130 (Electronic) Linking ISSN: 10903798 NLM ISO Abbreviation: Eur J Paediatr Neurol Subsets: MEDLINE
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.
Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: PubMed not MEDLINE
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