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Coupled brain and urine spectroscopy - in vivo metabolomic characterization of HMG-CoA lyase deficiency in 5 patients.
Roland, Dominique; Jissendi-Tchofo, Patrice; Briand, Gilbert; Vamecq, Joseph; Fontaine, Monique; Ultré, Vincent; Acquaviva-Bourdain, Cécile; Mention, Karine; Dobbelaere, Dries.
Afiliação
  • Roland D; Centre Agréé des Maladies Héréditaires du Métabolisme, Centre de Génétique Humaine, Institute of Pathology and Genetics, Gosselies (Charleroi), Belgium. Electronic address: dominique.roland@ipg.be.
  • Jissendi-Tchofo P; Department of Neuroradiology, Roger Salengro Hospital, CHRU Lille, France.
  • Briand G; Department of Biochemistry and Molecular Biology, Laboratory of Endocrinology, Metabolism-Nutrition, Oncology, Pathology Center, CHRU Lille, France.
  • Vamecq J; Inserm, Biochemistry and Molecular Biology, HMNO, Center of Biology and Pathology Pierre Marie Degand, CHRU Lille, France.
  • Fontaine M; Biochemistry and Molecular Biology, HMNO, Center of Biology and Pathology Pierre Marie Degand, CHRU Lille, France.
  • Ultré V; UDSL, Laboratoire de RMN, UFR Pharmacie, CHRU Lille, France.
  • Acquaviva-Bourdain C; Hereditary Metabolic Diseases Service, East Center for Biology and Pathology, Lyon Civil Hospices 69677 Bron cedex, France.
  • Mention K; Centre de Référence Maladies Héréditaires du Métabolisme de l'Enfant et de l'Adulte, Jeanne de Flandre Hospital, CHRU Lille, and RADEME EA 7364, Faculty of Medicine, University Lille 2, Lille 59037, France.
  • Dobbelaere D; Centre de Référence Maladies Héréditaires du Métabolisme de l'Enfant et de l'Adulte, Jeanne de Flandre Hospital, CHRU Lille, and RADEME EA 7364, Faculty of Medicine, University Lille 2, Lille 59037, France. Electronic address: dries.dobbelaere@chru-lille.fr.
Mol Genet Metab ; 121(2): 111-118, 2017 06.
Article em En | MEDLINE | ID: mdl-28396157
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Acetil-CoA C-Acetiltransferase / Encéfalo / Química Encefálica / Metabolômica / Erros Inatos do Metabolismo dos Aminoácidos / Meglutol Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Acetil-CoA C-Acetiltransferase / Encéfalo / Química Encefálica / Metabolômica / Erros Inatos do Metabolismo dos Aminoácidos / Meglutol Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Mol Genet Metab Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA / METABOLISMO Ano de publicação: 2017 Tipo de documento: Article