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Diagnostic pitfall in antenatal manifestations of CPT II deficiency.
Boemer, F; Deberg, M; Schoos, R; Caberg, J-H; Gaillez, S; Dugauquier, C; Delbecque, K; François, A; Maton, P; Demonceau, N; Senterre, G; Ferdinandusse, S; Debray, F-G.
Afiliação
  • Boemer F; Biochemical Genetics Lab, Department of Human Genetics, CHU Sart-Tilman, University of Liège, Liege, Belgium.
  • Deberg M; Biochemical Genetics Lab, Department of Human Genetics, CHU Sart-Tilman, University of Liège, Liege, Belgium.
  • Schoos R; Biochemical Genetics Lab, Department of Human Genetics, CHU Sart-Tilman, University of Liège, Liege, Belgium.
  • Caberg JH; Molecular Genetics Lab, Department of Human Genetics, CHU Sart-Tilman, University of Liège, Liege, Belgium.
  • Gaillez S; Clinical Genetics, Department of Human Genetics, CHU Sart-Tilman, University of Liège, Liege, Belgium.
  • Dugauquier C; Department of Pathology, Institut de Pathologie et de Génétique, Charleroi, Belgium.
  • Delbecque K; Department of Pathology, CHU Sart-Tilman, University of Liège, Liege, Belgium.
  • François A; Department of Pediatrics, Clinique Saint-Vincent, CHC, Liège, Belgium.
  • Maton P; Department of Pediatrics, Clinique Saint-Vincent, CHC, Liège, Belgium.
  • Demonceau N; Department of Pediatrics, Clinique Saint-Vincent, CHC, Liège, Belgium.
  • Senterre G; Department of Gynecology-Obstetrics, Clinique Saint-Vincent, CHC, Liège, Belgium.
  • Ferdinandusse S; Laboratory Genetic Metabolic Diseases, Academic Medical Center, Amsterdam, The Netherlands.
  • Debray FG; Clinical Genetics, Department of Human Genetics, CHU Sart-Tilman, University of Liège, Liege, Belgium.
Clin Genet ; 89(2): 193-7, 2016 Feb.
Article em En | MEDLINE | ID: mdl-25827434

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Carnitina O-Palmitoiltransferase / Erros Inatos do Metabolismo Tipo de estudo: Diagnostic_studies Limite: Adult / Female / Humans / Male / Newborn / Pregnancy Idioma: En Revista: Clin Genet Ano de publicação: 2016 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Carnitina O-Palmitoiltransferase / Erros Inatos do Metabolismo Tipo de estudo: Diagnostic_studies Limite: Adult / Female / Humans / Male / Newborn / Pregnancy Idioma: En Revista: Clin Genet Ano de publicação: 2016 Tipo de documento: Article