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The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease.
Kuperus, Esther; van der Meijden, Jan C; In 't Groen, Stijn L M; Kroos, Marian A; Hoogeveen-Westerveld, Marianne; Rizopoulos, Dimitris; Martinez, Monica Yasmin Nino; Kruijshaar, Michelle E; van Doorn, Pieter A; van der Beek, Nadine A M E; van der Ploeg, Ans T; Pijnappel, W W M Pim.
Afiliação
  • Kuperus E; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
  • van der Meijden JC; Department of Neurology, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
  • In 't Groen SLM; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
  • Kroos MA; Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
  • Hoogeveen-Westerveld M; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
  • Rizopoulos D; Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
  • Martinez MYN; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
  • Kruijshaar ME; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
  • van Doorn PA; Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
  • van der Beek NAME; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
  • van der Ploeg AT; Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
  • Pijnappel WWMP; Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
PLoS One ; 13(12): e0208854, 2018.
Article em En | MEDLINE | ID: mdl-30532252
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Polimorfismo Genético / Doença de Depósito de Glicogênio Tipo II / Peptidil Dipeptidase A / Terapia de Reposição de Enzimas / Modelos Biológicos Tipo de estudo: Guideline / Prognostic_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: PLoS One Assunto da revista: CIENCIA / MEDICINA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Holanda País de publicação: Estados Unidos
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Polimorfismo Genético / Doença de Depósito de Glicogênio Tipo II / Peptidil Dipeptidase A / Terapia de Reposição de Enzimas / Modelos Biológicos Tipo de estudo: Guideline / Prognostic_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: PLoS One Assunto da revista: CIENCIA / MEDICINA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Holanda País de publicação: Estados Unidos