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Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning.
Eggink, Hendriekje; Kuiper, Anouk; Peall, Kathryn J; Contarino, Maria Fiorella; Bosch, Annet M; Post, Bart; Sival, Deborah A; Tijssen, Marina A J; de Koning, Tom J.
Afiliação
  • Eggink H; Department of Neurology, University of Groningen, University Medical Center Groningen, Hanzeplein 1, 9700, RB, Groningen, The Netherlands. h.eggink@umcg.nl.
  • Kuiper A; Department of Neurology, University of Groningen, University Medical Center Groningen, Hanzeplein 1, 9700, RB, Groningen, The Netherlands. a.kuiper@umcg.nl.
  • Peall KJ; Department of Neurology, University of Groningen, University Medical Center Groningen, Hanzeplein 1, 9700, RB, Groningen, The Netherlands. kathrynpeall@yahoo.co.uk.
  • Contarino MF; Department of Neurology, University of Amsterdam, Academic Medical Centre, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands. m.f.contarino@amc.uva.nl.
  • Bosch AM; Department of Neurology, Haga Ziekenhuis Teaching Hospital, Leyweg 275, 2545, CH, The Hague, The Netherlands. m.f.contarino@amc.uva.nl.
  • Post B; Department of Paediatrics, University of Amsterdam, Academic Medical Centre, Meibergdreef 9, 1105, AZ, Amsterdam, The Netherlands. a.m.bosch@amc.uva.nl.
  • Sival DA; Department of Neurology, Radboud University Nijmegen Medical Centre, Geert Grooteplein-Zuid 10, 6525, GA, Nijmegen, The Netherlands. b.post@neuro.umcn.nl.
  • Tijssen MA; Department of Neurology, University of Groningen, University Medical Center Groningen, Hanzeplein 1, 9700, RB, Groningen, The Netherlands. d.a.sival@umcg.nl.
  • de Koning TJ; Department of Neurology, University of Groningen, University Medical Center Groningen, Hanzeplein 1, 9700, RB, Groningen, The Netherlands. m.a.j.de.koning-tijssen@umcg.nl.
Orphanet J Rare Dis ; 9: 177, 2014 Nov 26.
Article em En | MEDLINE | ID: mdl-25425461
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Qualidade de Vida / Adaptação Psicológica / Erros Inatos do Metabolismo / Transtornos dos Movimentos Tipo de estudo: Diagnostic_studies / Etiology_studies / Evaluation_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Qualidade de Vida / Adaptação Psicológica / Erros Inatos do Metabolismo / Transtornos dos Movimentos Tipo de estudo: Diagnostic_studies / Etiology_studies / Evaluation_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article