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Childhood Pompe disease: clinical spectrum and genotype in 31 patients.
van Capelle, C I; van der Meijden, J C; van den Hout, J M P; Jaeken, J; Baethmann, M; Voit, T; Kroos, M A; Derks, T G J; Rubio-Gozalbo, M E; Willemsen, M A; Lachmann, R H; Mengel, E; Michelakakis, H; de Jongste, J C; Reuser, A J J; van der Ploeg, A T.
Afiliación
  • van Capelle CI; Pompe Center and Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Room Sb-1629, P.O. BOX 2060, 3000 CB, Rotterdam, The Netherlands.
  • van der Meijden JC; Pompe Center and Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Room Sb-1629, P.O. BOX 2060, 3000 CB, Rotterdam, The Netherlands.
  • van den Hout JM; Pompe Center and Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Room Sb-1629, P.O. BOX 2060, 3000 CB, Rotterdam, The Netherlands.
  • Jaeken J; Centre for Metabolic Disease, University Hospital Gasthuisberg, KU Leuven, Leuven, Belgium.
  • Baethmann M; Department of Pediatrics, Hospital "Dritter Orden", Munich, Germany.
  • Voit T; NIHR Biomedical Research Centre, UCL Institute of Child Health and Great Ormond Street Hospital, London, UK.
  • Kroos MA; Pompe Center and Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Room Sb-1629, P.O. BOX 2060, 3000 CB, Rotterdam, The Netherlands.
  • Derks TG; Division of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Rubio-Gozalbo ME; Department of Pediatrics and Laboratory Genetic Metabolic Diseases, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Willemsen MA; Department of Pediatric Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Lachmann RH; Charles Dent Metabolic Unit at University College London Hospitals, London, UK.
  • Mengel E; Villa Metabolica, Centre for Pediatric and Adolescent Medicine, Mainz, Germany.
  • Michelakakis H; Department of Enzymology and Cellular Function, Institute of Child Health, Aghia Sophia Children's Hospital, Athens, Greece.
  • de Jongste JC; Department of Pediatrics, Division of Pediatric Respiratory Medicine, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Reuser AJ; Pompe Center and Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Room Sb-1629, P.O. BOX 2060, 3000 CB, Rotterdam, The Netherlands.
  • van der Ploeg AT; Pompe Center and Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Room Sb-1629, P.O. BOX 2060, 3000 CB, Rotterdam, The Netherlands. a.vanderploeg@erasmusmc.nl.
Orphanet J Rare Dis ; 11(1): 65, 2016 05 18.
Article en En | MEDLINE | ID: mdl-27189384
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad del Almacenamiento de Glucógeno Tipo II / Genotipo Tipo de estudio: Diagnostic_studies / Observational_studies / Prevalence_studies / Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2016 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad del Almacenamiento de Glucógeno Tipo II / Genotipo Tipo de estudio: Diagnostic_studies / Observational_studies / Prevalence_studies / Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2016 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Reino Unido