Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: data from the E‐HOD registry

Autor: Huemer, Martina, Diodato, Daria, Martinelli, Diego, Olivieri, Giorgia, Blom, Henk, Gleich, Florian, Kölker, Stefan, Kožich, 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, 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, Ruiz Gómez, Maria Angeles, Santra, Saikat, Schiff, Manuel, Schwartz, Ida Vanessa, Scholl‐Bürgi, Sabine, Servais, Aude, Skouma, Anastasia, Tran, Christel, Vives Piñera, Inmaculada, Walter, John, Weisfeld‐Adams, James

© 2018 SSIEM
Aim: To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders from the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD) internat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1961::f9daedfe952d4138d627f95c785cae8e
https://hdl.handle.net/10451/54227

Extensive extra-osseous accumulation of 99mTc-hydroximethylene diphosphonate in a patient with unsuspected dermatomyositis: Whole-body scintigraphy and SPECT/CT

Autor: Sainz Esteban, Aurora, González Selma, María Luisa, Ruiz-Gómez, María Ángeles, García-Talavera San Miguel, Paloma, Gamazo Laherrán, Claudia, Olmos García, Roberto

Publikováno v: In Revista Española de Medicina Nuclear e Imagen Molecular (English Edition) July-August 2014 33(4):255-256

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

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.