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A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3.
Ferdinandusse, Sacha; Jimenez-Sanchez, Gerardo; Koster, Janet; Denis, Simone; Van Roermund, Carlo W; Silva-Zolezzi, Irma; Moser, Ann B; Visser, Wouter F; Gulluoglu, Mine; Durmaz, Ozlem; Demirkol, Mubeccel; Waterham, Hans R; Gökcay, Gülden; Wanders, Ronald J A; Valle, David.
Afiliação
  • Ferdinandusse S; Laboratory Genetic Metabolic Diseases, Department of Pediatrics and Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands s.ferdinandusse@amc.nl.
  • Jimenez-Sanchez G; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.
  • Koster J; Laboratory Genetic Metabolic Diseases, Department of Pediatrics and Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
  • Denis S; Laboratory Genetic Metabolic Diseases, Department of Pediatrics and Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
  • Van Roermund CW; Laboratory Genetic Metabolic Diseases, Department of Pediatrics and Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
  • Silva-Zolezzi I; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA Programa de Posgrado en Biomedicina Molecular. Cinvestav-IPN, Av. IPN 2508, Col. Zacatenco, CP 07360, México, D.F., Mexico.
  • Moser AB; Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
  • Visser WF; Laboratory Genetic Metabolic Diseases, Department of Pediatrics and Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
  • Gulluoglu M; Department of Pathology and.
  • Durmaz O; Department of Pediatric Gastrohepatology.
  • Demirkol M; Department of Pediatric Nutrition and Metabolism, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey and.
  • Waterham HR; Laboratory Genetic Metabolic Diseases, Department of Pediatrics and Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
  • Gökcay G; Department of Pediatric Nutrition and Metabolism, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey and.
  • Wanders RJ; Laboratory Genetic Metabolic Diseases, Department of Pediatrics and Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
  • Valle D; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.
Hum Mol Genet ; 24(2): 361-70, 2015 Jan 15.
Article em En | MEDLINE | ID: mdl-25168382
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ácidos e Sais Biliares / Transportadores de Cassetes de Ligação de ATP / Peroxissomos / Hepatopatias Tipo de estudo: Prognostic_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Holanda
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ácidos e Sais Biliares / Transportadores de Cassetes de Ligação de ATP / Peroxissomos / Hepatopatias Tipo de estudo: Prognostic_studies Limite: Animals / Female / Humans / Male Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Holanda