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The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery.
Gonzalez Melo, Mary; Remacle, Noémie; Cudré-Cung, Hong-Phuc; Roux, Clothilde; Poms, Martin; Cudalbu, Cristina; Barroso, Madalena; Gersting, Søren Waldemar; Feichtinger, René Günther; Mayr, Johannes Adalbert; Costanzo, Michele; Caterino, Marianna; Ruoppolo, Margherita; Rüfenacht, Véronique; Häberle, Johannes; Braissant, Olivier; Ballhausen, Diana.
Afiliação
  • Gonzalez Melo M; Pediatric Metabolic Unit, Pediatrics, Woman-Mother-Child Department, University of Lausanne and University Hospital of Lausanne, Switzerland. Electronic address: mary.gonzalez-melo@chuv.chm.
  • Remacle N; Pediatric Metabolic Unit, Pediatrics, Woman-Mother-Child Department, University of Lausanne and University Hospital of Lausanne, Switzerland.
  • Cudré-Cung HP; Pediatric Metabolic Unit, Pediatrics, Woman-Mother-Child Department, University of Lausanne and University Hospital of Lausanne, Switzerland.
  • Roux C; Service of Clinical Chemistry, University of Lausanne and University Hospital of Lausanne, Switzerland. Electronic address: Clothilde.Roux@chuv.ch.
  • Poms M; Klinische Chemie und Biochemie Universitäts-Kinderspital Zürich, Switzerland. Electronic address: Martin.Poms@kispi.uzh.ch.
  • Cudalbu C; CIBM Center for Biomedical Imaging, Switzerland; Animal Imaging and Technology, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland. Electronic address: cristina.cudalbu@epfl.ch.
  • Barroso M; University Children's Research, UCR@Kinder-UKE, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Electronic address: m.barroso@uke.de.
  • Gersting SW; University Children's Research, UCR@Kinder-UKE, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Electronic address: gersting@uke.de.
  • Feichtinger RG; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria. Electronic address: r.feichtinger@salk.at.
  • Mayr JA; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria. Electronic address: h.Mayr@salk.at.
  • Costanzo M; Department of Molecular Medicine and Medical Biotechnology, School of Medicine, University of Naples Federico II, 80131 Naples, Italy; CEINGE - Biotecnologie Avanzate s.c.ar.l., 80145 Naples, Italy. Electronic address: michele.costanzo@unina.it.
  • Caterino M; Department of Molecular Medicine and Medical Biotechnology, School of Medicine, University of Naples Federico II, 80131 Naples, Italy; CEINGE - Biotecnologie Avanzate s.c.ar.l., 80145 Naples, Italy. Electronic address: marianna.caterino@unina.it.
  • Ruoppolo M; Department of Molecular Medicine and Medical Biotechnology, School of Medicine, University of Naples Federico II, 80131 Naples, Italy; CEINGE - Biotecnologie Avanzate s.c.ar.l., 80145 Naples, Italy. Electronic address: margherita.ruoppolo@unina.it.
  • Rüfenacht V; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland. Electronic address: veronique.ruefenacht@kispi.uzh.ch.
  • Häberle J; Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland. Electronic address: Johannes.Haeberle@kispi.uzh.ch.
  • Braissant O; Service of Clinical Chemistry, University of Lausanne and University Hospital of Lausanne, Switzerland. Electronic address: Olivier.Braissant@chuv.ch.
  • Ballhausen D; Pediatric Metabolic Unit, Pediatrics, Woman-Mother-Child Department, University of Lausanne and University Hospital of Lausanne, Switzerland. Electronic address: diana.ballhausen@chuv.ch.
Mol Genet Metab ; 133(2): 157-181, 2021 06.
Article em En | MEDLINE | ID: mdl-33965309
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encéfalo / Encefalopatias Metabólicas / Glutaril-CoA Desidrogenase / Erros Inatos do Metabolismo dos Aminoácidos / Gliose Limite: Animals / Humans Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encéfalo / Encefalopatias Metabólicas / Glutaril-CoA Desidrogenase / Erros Inatos do Metabolismo dos Aminoácidos / Gliose Limite: Animals / Humans Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2021 Tipo de documento: Article