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Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate ß-oxidation in symptomatic patients with ACADS gene susceptibility variants.
Dessein, Anne-Frédérique; Fontaine, Monique; Joncquel-Chevalier Curt, Marie; Briand, Gilbert; Sechter, Claire; Mention-Mulliez, Karine; Dobbelaere, Dries; Douillard, Claire; Lacour, Arnaud; Redonnet-Vernhet, Isabelle; Lamireau, Delphine; Barth, Magalie; Minot-Myhié, Marie-Christine; Kuster, Alice; de Lonlay, Pascale; Gregersen, Niels; Acquaviva, Cécile; Vianey-Saban, Christine; Vamecq, Joseph.
Afiliação
  • Dessein AF; Department of Biochemistry and Molecular Biology, Laboratory of Hormonology, Metabolism-Nutrition & Oncology (HMNO), Center of Biology and Pathology (CBP) Pierre-Marie Degand, CHRU Lille, France.
  • Fontaine M; Department of Biochemistry and Molecular Biology, Laboratory of Hormonology, Metabolism-Nutrition & Oncology (HMNO), Center of Biology and Pathology (CBP) Pierre-Marie Degand, CHRU Lille, France; Univ. Lille, EA 7364 - RADEME - Maladies RAres du Développement et du Métabolisme: du phénotype au g
  • Joncquel-Chevalier Curt M; Department of Biochemistry and Molecular Biology, Laboratory of Hormonology, Metabolism-Nutrition & Oncology (HMNO), Center of Biology and Pathology (CBP) Pierre-Marie Degand, CHRU Lille, France; Univ. Lille, EA 7364 - RADEME - Maladies RAres du Développement et du Métabolisme: du phénotype au g
  • Briand G; Department of Biochemistry and Molecular Biology, Laboratory of Hormonology, Metabolism-Nutrition & Oncology (HMNO), Center of Biology and Pathology (CBP) Pierre-Marie Degand, CHRU Lille, France; Univ. Lille, EA 7364 - RADEME - Maladies RAres du Développement et du Métabolisme: du phénotype au g
  • Sechter C; Medical Reference Center for Inherited Metabolic Diseases, Jeanne de Flandre Hospital, CHRU Lille, France.
  • Mention-Mulliez K; Univ. Lille, EA 7364 - RADEME - Maladies RAres du Développement et du Métabolisme: du phénotype au génotype et à la Fonction, Lille, France; Medical Reference Center for Inherited Metabolic Diseases, Jeanne de Flandre Hospital, CHRU Lille, France.
  • Dobbelaere D; Univ. Lille, EA 7364 - RADEME - Maladies RAres du Développement et du Métabolisme: du phénotype au génotype et à la Fonction, Lille, France; Medical Reference Center for Inherited Metabolic Diseases, Jeanne de Flandre Hospital, CHRU Lille, France.
  • Douillard C; Medical Reference Center for Inherited Metabolic Diseases, Jeanne de Flandre Hospital, CHRU Lille, France.
  • Lacour A; Medical Reference Center for Adult Neuromuscular Diseases, Roger Salengro Hospital, CHRU Lille, France.
  • Redonnet-Vernhet I; Paediatric Intensive Care Unit (DL) and Department of Biochemistry, Laboratory of Inborn Errors of Metabolism and Neonatal Screening (IR-V), Hôpital Pellegrin, CHU Bordeaux, France.
  • Lamireau D; Paediatric Intensive Care Unit (DL) and Department of Biochemistry, Laboratory of Inborn Errors of Metabolism and Neonatal Screening (IR-V), Hôpital Pellegrin, CHU Bordeaux, France.
  • Barth M; Metabolic Diseases and Genetics, CHU Angers, France.
  • Minot-Myhié MC; Cabinet de neurologie & CHU Rennes, France.
  • Kuster A; Inborn Errors of Metabolism, Pediatric Intensive Care Unit, University Hospital of Nantes, France.
  • de Lonlay P; Reference Center for Inherited Metabolic Diseases, Hôpital Necker, Institut Imagine, Faculté Paris Descartes & Hôpital Necker-Enfants Malades, Paris, France.
  • Gregersen N; Research Unit for Molecular Medicine, Institute of Clinical Medicine, Aarhus University, Denmark.
  • Acquaviva C; Department of Inborn Errors of Metabolism and Neonatal Screening, Center of Biology and Pathology, CHU Lyon, Bron, France.
  • Vianey-Saban C; Department of Inborn Errors of Metabolism and Neonatal Screening, Center of Biology and Pathology, CHU Lyon, Bron, France.
  • Vamecq J; Department of Biochemistry and Molecular Biology, Laboratory of Hormonology, Metabolism-Nutrition & Oncology (HMNO), Center of Biology and Pathology (CBP) Pierre-Marie Degand, CHRU Lille, France; Univ. Lille, EA 7364 - RADEME - Maladies RAres du Développement et du Métabolisme: du phénotype au g
Clin Chim Acta ; 471: 101-106, 2017 Aug.
Article em En | MEDLINE | ID: mdl-28532786
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ácido Palmítico / Predisposição Genética para Doença / Polimorfismo de Nucleotídeo Único / Acil-CoA Desidrogenase / Análise do Fluxo Metabólico / Mitocôndrias Tipo de estudo: Diagnostic_studies Limite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Clin Chim Acta Ano de publicação: 2017 Tipo de documento: Article País de afiliação: França
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ácido Palmítico / Predisposição Genética para Doença / Polimorfismo de Nucleotídeo Único / Acil-CoA Desidrogenase / Análise do Fluxo Metabólico / Mitocôndrias Tipo de estudo: Diagnostic_studies Limite: Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Clin Chim Acta Ano de publicação: 2017 Tipo de documento: Article País de afiliação: França