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Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study.
Schwahn, Bernd C; Van Spronsen, Francjan J; Belaidi, Abdel A; Bowhay, Stephen; Christodoulou, John; Derks, Terry G; Hennermann, Julia B; Jameson, Elisabeth; König, Kai; McGregor, Tracy L; Font-Montgomery, Esperanza; Santamaria-Araujo, José A; Santra, Saikat; Vaidya, Mamta; Vierzig, Anne; Wassmer, Evangeline; Weis, Ilona; Wong, Flora Y; Veldman, Alex; Schwarz, Günter.
Afiliación
  • Schwahn BC; Royal Hospital for Sick Children, NHS Greater Glasgow and Clyde, Glasgow, UK; Willink Biochemical Genetics Unit, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK. Electronic address: bernd.schwahn@cmft.nhs.uk.
  • Van Spronsen FJ; Beatrix Children's Hospital, University Medical Center of Groningen, University of Groningen, Groningen, Netherlands.
  • Belaidi AA; Institute of Biochemistry, Department of Chemistry, Center for Molecular Medicine Cologne, CECAD Cologne, University of Cologne, Cologne, Germany; Florey Institute of Neuroscience and Mental Health, University of Melbourne, Melbourne, VIC, Australia.
  • Bowhay S; Royal Hospital for Sick Children, NHS Greater Glasgow and Clyde, Glasgow, UK.
  • Christodoulou J; Western Sydney Genetics Program, Children's Hospital at Westmead, and Disciplines of Paediatrics & Child Health and Genetic Medicine, University of Sydney, Sydney, NSW, Australia.
  • Derks TG; Beatrix Children's Hospital, University Medical Center of Groningen, University of Groningen, Groningen, Netherlands.
  • Hennermann JB; Villa Metabolica, Center for Pediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.
  • Jameson E; Willink Biochemical Genetics Unit, Saint Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
  • König K; Department of Pediatrics, Mercy Hospital for Women, Melbourne, VIC, Australia.
  • McGregor TL; Department of Pediatrics, Vanderbilt University School of Medicine and Monroe Carell Jr Children's Hospital at Vanderbilt, Nashville, TN, USA.
  • Font-Montgomery E; Children's Hospital of Wisconsin, Milwaukee, WI, USA.
  • Santamaria-Araujo JA; Orphatec/Colbourne Pharmaceuticals, Niederkassel, Germany.
  • Santra S; Birmingham Children's Hospital, Birmingham, UK.
  • Vaidya M; Paediatric Intensive Care, Bart's Health NHS Trust, Royal London Hospital, London, UK.
  • Vierzig A; Paediatric Intensive Care, University Children's Hospital, University of Cologne, Cologne, Germany.
  • Wassmer E; Birmingham Children's Hospital, Birmingham, UK.
  • Weis I; Children's Hospital, Gemeinschaftsklinikum Koblenz-Mayen, Kemperhof, Koblenz, Germany.
  • Wong FY; Monash Newborn, Monash Medical Centre, The Ritchie Centre, Hudson Institute of Medical Research, and The Department of Paediatrics, Monash University, Melbourne, VIC, Australia.
  • Veldman A; Orphatec/Colbourne Pharmaceuticals, Niederkassel, Germany; Monash Newborn, Monash Medical Centre, The Ritchie Centre, Hudson Institute of Medical Research, and The Department of Paediatrics, Monash University, Melbourne, VIC, Australia.
  • Schwarz G; Institute of Biochemistry, Department of Chemistry, Center for Molecular Medicine Cologne, CECAD Cologne, University of Cologne, Cologne, Germany; Orphatec/Colbourne Pharmaceuticals, Niederkassel, Germany.
Lancet ; 386(10007): 1955-1963, 2015 Nov 14.
Article en En | MEDLINE | ID: mdl-26343839
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Compuestos Organofosforados / Pterinas / Errores Innatos del Metabolismo de los Metales Tipo de estudio: Diagnostic_studies / Etiology_studies / Guideline / Incidence_studies / Observational_studies / Risk_factors_studies Límite: Female / Humans / Male / Newborn Idioma: En Revista: Lancet Año: 2015 Tipo del documento: Article Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Compuestos Organofosforados / Pterinas / Errores Innatos del Metabolismo de los Metales Tipo de estudio: Diagnostic_studies / Etiology_studies / Guideline / Incidence_studies / Observational_studies / Risk_factors_studies Límite: Female / Humans / Male / Newborn Idioma: En Revista: Lancet Año: 2015 Tipo del documento: Article Pais de publicación: Reino Unido