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Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
Huemer, Martina; Diodato, Daria; Martinelli, Diego; Olivieri, Giorgia; Blom, Henk; Gleich, Florian; Kölker, Stefan; Kozich, Viktor; Morris, Andrew A; Seifert, Burkhardt; Froese, D Sean; Baumgartner, Matthias R; Dionisi-Vici, Carlo; Martin, Carlos Alcalde; Baethmann, Martina; Ballhausen, Diana; Blasco-Alonso, Javier; Boy, Nikolas; Bueno, Maria; Burgos Peláez, Rosa; Cerone, Roberto; Chabrol, Brigitte; Chapman, Kimberly A; Couce, Maria Luz; Crushell, Ellen; Dalmau Serra, Jaime; Diogo, Luisa; Ficicioglu, Can; García Jimenez, Maria Concepcion; García Silva, Maria Teresa; Gaspar, Ana Maria; Gautschi, Matthias; González-Lamuño, Domingo; Gouveia, Sofia; Grünewald, Stephanie; Hendriksz, Chris; Janssen, Mirian C H; Jesina, Pavel; Koch, Johannes; Konstantopoulou, Vassiliki; Lavigne, Christian; Lund, Allan M; Martins, Esmeralda G; Meavilla Olivas, Silvia; Mention, Karine; Mochel, Fanny; Mundy, Helen; Murphy, Elaine; Paquay, Stephanie; Pedrón-Giner, Consuelo.
Afiliación
  • Huemer M; Division of Metabolism and Children's Research Center, University Children's Hospital, Zürich, Switzerland.
  • Diodato D; radiz-Rare Disease Initiative Zürich, University Zürich, Zürich, Switzerland.
  • Martinelli D; Department of Pediatrics, Landeskrankenhaus Bregenz, Bregenz, Austria.
  • Olivieri G; Division of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy.
  • Blom H; Division of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy.
  • Gleich F; Division of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy.
  • Kölker S; Department of Internal Medicine, VU Medical Center, Amsterdam, The Netherlands.
  • Kozich V; Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, Heidelberg, Germany.
  • Morris AA; Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, Heidelberg, Germany.
  • Seifert B; Department of Pediatrics and Adolescent Medicine, Charles University-First Faculty of Medicine and General University Hospital, Prague, Czech Republic.
  • Froese DS; Willink Metabolic Unit, Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
  • Baumgartner MR; Department of Biostatistics at Epidemiology, Biostatistics and Prevention Institute, University Zürich, Zürich, Switzerland.
  • Dionisi-Vici C; Division of Metabolism and Children's Research Center, University Children's Hospital, Zürich, Switzerland.
  • Martin CA; Division of Metabolism and Children's Research Center, University Children's Hospital, Zürich, Switzerland.
  • Baethmann M; radiz-Rare Disease Initiative Zürich, University Zürich, Zürich, Switzerland.
  • Ballhausen D; Division of Metabolism, Bambino Gesù Children's Hospital, Rome, Italy.
  • Boy N; Hospital Universitario Río Hortega, Valladolid, Spain.
  • Bueno M; Department of Pediatrics, Sozialpädiatrisches Zentrum, Klinikum Dritter Orden München-Nymphenburg, Munich, Germany.
  • Burgos Peláez R; Center for Molecular Diseases, University Hospital Lausanne, Lausanne, Switzerland.
  • Cerone R; Sección de Gastroenterología y Nutrición Pediátrica, Hospital Regional de Málaga, Málaga, Spain.
  • Chabrol B; Division of Child Neurology and Metabolic Medicine, Centre for Child and Adolescent Medicine, Heidelberg, Germany.
  • Chapman KA; Hospital Universitario Virgen del Rocío, Sevilla, Spain.
  • Couce ML; Nutritional Support Unit, University Hospital Vall d'Hebron, Barcelona, Spain.
  • Crushell E; University Department of Pediatrics, Giannina Gaslini Institute, Genoa, Italy.
  • Dalmau Serra J; Centre de Référence des Maladies Héréditaires du Métabolisme, CHU La Timone Enfants, Marseille, France.
  • Diogo L; Children's National Rare Disease Institute, Genetics and Metabolism, Washington, DC, USA.
  • Ficicioglu C; 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.
  • García Jimenez MC; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland.
  • García Silva MT; Unidad de Nutrición y Metabolopatías, Hospital Universitario La Fe, Valencia, Spain.
  • Gaspar AM; Centro de Referência de Doencas Hereditárias do Metabolismo. Centro de Desenvolvimento da Criança - Hospital Pediátrico - Centro Hospitalar e Universitário De Coimbra, Coimbra, Portugal.
  • Gautschi M; Division of Human Genetics, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
  • González-Lamuño D; Hospital Infantil Miguel Servet, Zaragoza, Spain.
  • Gouveia S; Universitary Hospital 12 Octubre, Madrid, Spain.
  • Grünewald S; Centro Academico de Medicina de Lisboa, Lisbon, Portugal.
  • Hendriksz C; Interdisciplinary Metabolic Team, Paediatric Endocrinology, Diabetology and Metabolism, University Children's Hospital and University Institute of Clinical Chemistry Inselspital, Berne, Switzerland.
  • Janssen MCH; Department of Pediatrics, University Hospital Marqués de Valdecilla, Universidad de Cantabria, Santander, Spain.
  • Jesina P; 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.
  • Koch J; Institute for Child HealthGreat Ormond Street Hospital, University College London, London, UK.
  • Konstantopoulou V; Salford Royal NHS Foundation Trust, Salford, UK.
  • Lavigne C; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Lund AM; Department of Pediatrics and Adolescent Medicine, Charles University-First Faculty of Medicine and General University Hospital, Prague, Czech Republic.
  • Martins EG; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria.
  • Meavilla Olivas S; Department of Pediatrics and Adolescent Medicine, Medical University Vienna, Vienna, Austria.
  • Mention K; Médecine Interne et Maladies Vasculaires, Centre Hospitalier Universitaire Angers, Angers, France.
  • Mochel F; Centre Inherited Metabolic Diseases, Departments of Clinical Genetics and Paediatrics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
  • Mundy H; Reference Center for Inherited Metabolic Diseases, Centro Hospitalar do Porto, Porto, Portugal.
  • Murphy E; Division of Gastroenterology, Hepatology and Nutrition, Sant Joan de Déu Hospital, Barcelona, Spain.
  • Paquay S; Hôpital Jeanne de Flandre, Lille, France.
  • Pedrón-Giner C; Reference Center for Adult Neurometabolic Diseases, University Pierre and Marie Curie, La Pitié-Salpêtrière University Hospital, Paris, France.
J Inherit Metab Dis ; 42(2): 333-352, 2019 03.
Article en En | MEDLINE | ID: mdl-30773687
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Vitamina B 12 / Metilenotetrahidrofolato Reductasa (NADPH2) / Errores Innatos del Metabolismo de los Aminoácidos / Homocistinuria / Espasticidad Muscular Tipo de estudio: Observational_studies / Prevalence_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn / Pregnancy País/Región como asunto: Europa Idioma: En Revista: J Inherit Metab Dis Año: 2019 Tipo del documento: Article País de afiliación: Suiza
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Vitamina B 12 / Metilenotetrahidrofolato Reductasa (NADPH2) / Errores Innatos del Metabolismo de los Aminoácidos / Homocistinuria / Espasticidad Muscular Tipo de estudio: Observational_studies / Prevalence_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn / Pregnancy País/Región como asunto: Europa Idioma: En Revista: J Inherit Metab Dis Año: 2019 Tipo del documento: Article País de afiliación: Suiza