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A novel case of ACOX2 deficiency leads to recognition of a third human peroxisomal acyl-CoA oxidase.
Ferdinandusse, Sacha; Denis, Simone; van Roermund, Carlo W T; Preece, Mary Anne; Koster, Janet; Ebberink, Merel S; Waterham, Hans R; Wanders, Ronald J A.
Afiliação
  • Ferdinandusse S; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Center, Amsterdam, The Netherlands. Electronic address: S.Ferdinandusse@amc.nl.
  • Denis S; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Center, Amsterdam, The Netherlands.
  • van Roermund CWT; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Center, Amsterdam, The Netherlands.
  • Preece MA; Department of Newborn Screening and Biochemical Genetics, Birmingham Children's Hospital NHS Foundation Trust, Birmingham B4 6NH, United Kingdom.
  • Koster J; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Center, Amsterdam, The Netherlands.
  • Ebberink MS; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Center, Amsterdam, The Netherlands.
  • Waterham HR; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Center, Amsterdam, The Netherlands.
  • Wanders RJA; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Center, Amsterdam, The Netherlands.
Biochim Biophys Acta Mol Basis Dis ; 1864(3): 952-958, 2018 Mar.
Article em En | MEDLINE | ID: mdl-29287774
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Oxirredutases Tipo de estudo: Prognostic_studies Limite: Female / Humans / Newborn País como assunto: Asia Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Oxirredutases Tipo de estudo: Prognostic_studies Limite: Female / Humans / Newborn País como assunto: Asia Idioma: En Ano de publicação: 2018 Tipo de documento: Article