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Newborn screening for homocystinurias: Recent recommendations versus current practice.
Keller, Rebecca; Chrastina, Petr; Pavlíková, Markéta; Gouveia, Sofía; Ribes, Antonia; Kölker, Stefan; Blom, Henk J; Baumgartner, Matthias R; Bártl, Josef; Dionisi-Vici, Carlo; Gleich, Florian; Morris, Andrew A; Kozich, Viktor; Huemer, Martina; Baric, Ivo; Ben-Omran, Tawfeq; Blasco-Alonso, Javier; Bueno Delgado, Maria A; Carducci, Claudia; Cassanello, Michela; Cerone, Roberto; Couce, Maria Luz; Crushell, Ellen; Delgado Pecellin, Carmen; Dulin, Elena; Espada, Mercedes; Ferino, Giulio; Fingerhut, Ralph; Garcia Jimenez, Immaculada; Gonzalez Gallego, Immaculada; González-Irazabal, Yolanda; Gramer, Gwendolyn; Juan Fita, Maria Jesus; Karg, Eszter; Klein, Jeanette; Konstantopoulou, Vassiliki; la Marca, Giancarlo; Leão Teles, Elisa; Leuzzi, Vincenzo; Lilliu, Franco; Lopez, Rosa Maria; Lund, Allan M; Mayne, Philip; Meavilla, Silvia; Moat, Stuart J; Okun, Jürgen G; Pasquini, Elisabeta; Pedron-Giner, Consuélo Carmen; Racz, Gabor Zoltan; Ruiz Gomez, Maria Angeles.
Afiliação
  • Keller R; Division of Metabolism and Children's Research Center, University Children's Hospital Zürich, Zürich, Switzerland.
  • Chrastina P; radiz-Rare Disease Initiative Zürich, Clinical Research Priority Program, University of Zürich, Zürich, Switzerland.
  • Pavlíková M; Department of Pediatrics and Adolescent Medicine, Charles University-First Faculty of Medicine and General University Hospital, Ke Karlovu 2, 128 08 Praha 2, Czech Republic.
  • Gouveia S; Department of Pediatrics and Adolescent Medicine, Charles University-First Faculty of Medicine and General University Hospital, Ke Karlovu 2, 128 08 Praha 2, Czech Republic.
  • Ribes A; Department of Probability and Mathematical Statistics, Charles University-Faculty of Mathematics and Physics, Prague, Czech Republic.
  • Kölker S; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, S. Neonatology, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, Spain.
  • Blom HJ; Division of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clinic de Barcelona, CIBERER, Barcelona, Spain.
  • Baumgartner MR; Division of Neuropaediatrics and Metabolic Medicine, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Bártl J; Department of Internal Medicine, VU Medical Center, Amsterdam, The Netherlands.
  • Dionisi-Vici C; Division of Metabolism and Children's Research Center, University Children's Hospital Zürich, Zürich, Switzerland.
  • Gleich F; radiz-Rare Disease Initiative Zürich, Clinical Research Priority Program, University of Zürich, Zürich, Switzerland.
  • Morris AA; Department of Pediatrics and Adolescent Medicine, Charles University-First Faculty of Medicine and General University Hospital, Ke Karlovu 2, 128 08 Praha 2, Czech Republic.
  • Kozich V; Division of Metabolism, Bambino Gesù Children's Research Hospital, Rome, Italy.
  • Huemer M; Division of Neuropaediatrics and Metabolic Medicine, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Baric I; Department of Pediatrics and Adolescent Medicine, Charles University-First Faculty of Medicine and General University Hospital, Ke Karlovu 2, 128 08 Praha 2, Czech Republic.
  • Ben-Omran T; Division of Metabolism and Children's Research Center, University Children's Hospital Zürich, Zürich, Switzerland.
  • Blasco-Alonso J; radiz-Rare Disease Initiative Zürich, Clinical Research Priority Program, University of Zürich, Zürich, Switzerland.
  • Bueno Delgado MA; Department of Paediatrics, Landeskrankenhaus Bregenz, Bregenz, Austria.
  • Cassanello M; School of Medicine, University Hospital Centre Zagreb and University of Zagreb, Zagreb, Croatia.
  • Cerone R; Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.
  • Couce ML; Gastroenterology and Nutrition Unit, Hospital Regional Universitario de Málaga, Málaga, Spain.
  • Crushell E; Clinical Laboratory of Metabolic Diseases and Occidental Andalucia Newborn Screening Center, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
  • Delgado Pecellin C; Department of Experimental Medicine, Sapienza University of Rome, Rome, Italy.
  • Dulin E; Laboratory for the Study of Inborn Errors of Metabolism, Istituto Giannina Gaslini, Genoa, Italy.
  • Espada M; Regional Center for Neonatal Screening and Diagnosis of Metabolic Diseases, University Department of Pediatrics-Istituto Giannina Gaslini, Genoa, Italy.
  • Ferino G; Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, S. Neonatology, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, Spain.
  • Fingerhut R; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland.
  • Garcia Jimenez I; Clinical Laboratory of Metabolic Diseases and Occidental Andalucia Newborn Screening Center, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
  • Gonzalez Gallego I; Hospital Gregorio Marañon, Madrid, Spain.
  • González-Irazabal Y; Clinical Chemistry Unit, Public Health Laboratory of Bilbao, Euskadi, Spain.
  • Gramer G; Regional Center for Newborn Screening, Pediatric Hospital A. Cao, AOB Brotzu, Cagliari, Italy.
  • Juan Fita MJ; Division of Metabolism and Children's Research Center, University Children's Hospital Zürich, Zürich, Switzerland.
  • Karg E; Swiss Newborn Screening Laboratory, University Children's Hospital Zurich, Zurich, Switzerland.
  • Klein J; Unidad de Metabolismo, Hospital Infantil Miguel Servet, Zaragoza, Spain.
  • Konstantopoulou V; Sección Metabolopatías Centro de Bioquímica y Genetica, Hospital Virgen de la Arrixaca, Murcia, Spain.
  • la Marca G; Unidad de Metabolopatias, Servicio de Bioquímica Clínica, Hospital Universitario Miguel Servet, Zaragoza, Spain.
  • Leão Teles E; Division of Neuropaediatrics and Metabolic Medicine, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
  • Leuzzi V; Sección Metabolopatías Centro de Bioquímica y Genetica, Hospital Virgen de la Arrixaca, Murcia, Spain.
  • Lilliu F; Department of Pediatrics, University of Szeged, Szeged, Hungary.
  • Lopez RM; Newborn Screening Laboratory, Charité-University Medicine Berlin, Berlin, Germany.
  • Lund AM; Austrian Newborn Screening, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.
  • Mayne P; Newborn Screening, Clinical Chemistry and Pharmacology Lab, A. Meyer Children's University Hospital, Florence, Italy.
  • Meavilla S; Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy.
  • Moat SJ; Metabolic Unit, Department of Pediatrics, San Joao Hospital, Porto, Portugal.
  • Okun JG; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.
  • Pasquini E; Regional Center for Newborn Screening, Pediatric Hospital A. Cao, AOB Brotzu, Cagliari, Italy.
  • Pedron-Giner CC; Division of Inborn Errors of Metabolism, Department of Biochemistry and Molecular Genetics, Hospital Clinic de Barcelona, CIBERER, Barcelona, Spain.
  • Racz GZ; Centre for Inherited Metabolic Diseases, Departments of Paediatrics and Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.
  • Ruiz Gomez MA; National Newborn Bloodspot Screening Laboratory, Temple Street Children's University Hospital, Dublin, Ireland.
J Inherit Metab Dis ; 42(1): 128-139, 2019 01.
Article em En | MEDLINE | ID: mdl-30740731
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Homocistinúria Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies / Screening_studies Limite: Female / Humans / Male / Newborn Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Suíça País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Homocistinúria Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies / Screening_studies Limite: Female / Humans / Male / Newborn Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Suíça País de publicação: Estados Unidos