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Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles.
Kuster, Alice; Arnoux, Jean-Baptiste; Barth, Magalie; Lamireau, Delphine; Houcinat, Nada; Goizet, Cyril; Doray, Bérénice; Gobin, Stéphanie; Schiff, Manuel; Cano, Aline; Amsallem, Daniel; Barnerias, Christine; Chaumette, Boris; Plaze, Marion; Slama, Abdelhamid; Ioos, Christine; Desguerre, Isabelle; Lebre, Anne-Sophie; de Lonlay, Pascale; Christa, Laurence.
Afiliação
  • Kuster A; Neurometabolism department, Nantes Hospital and University, Nantes, France.
  • Arnoux JB; Reference center for inherited metabolic diseases, Necker Enfants-Malades Hospital, Assistance Publique Hôpitaux de Paris, Imagine Institute, Paris Descartes University, Paris, France.
  • Barth M; Neurometabolism department, Angers Hospital and University, Angers, France.
  • Lamireau D; Neuropediatric and Neurogenetic department, MRGM laboratory, National institute for health and medical research U1211, Pellegrin Hospital and University, Bordeaux, France.
  • Houcinat N; Neuropediatric and Neurogenetic department, MRGM laboratory, National institute for health and medical research U1211, Pellegrin Hospital and University, Bordeaux, France.
  • Goizet C; Neuropediatric and Neurogenetic department, MRGM laboratory, National institute for health and medical research U1211, Pellegrin Hospital and University, Bordeaux, France.
  • Doray B; Genetic department, Félix Guyon Hospital and University, Saint-Denis de la Réunion, France.
  • Gobin S; Genetic department, Necker-Enfants Malades Hospital, Assistance Publique Hôpitaux de Paris, Paris, France.
  • Schiff M; Neurometabolism and Biochemical department, Robert Debré Hospital and University, Paris, France.
  • Cano A; Reference center for inherited metabolic diseases, la Timone-Marseille Hospital and University, Marseille, France.
  • Amsallem D; Neuropediatric department, Jean Minjoz Hospital, Besançon, France.
  • Barnerias C; Neurology department, Necker Enfants Malades Hospital and Paris Descartes University, Paris, France.
  • Chaumette B; Sainte Anne Hospital, University Hospital Department (SHU), Paris Descartes University and Institut National de la Santé et de la Recherche Médicale INSERM U894, CNRS GDR, 3557, Paris, France.
  • Plaze M; Sainte Anne Hospital, University Hospital Department (SHU), Paris Descartes University and Institut National de la Santé et de la Recherche Médicale INSERM U894, CNRS GDR, 3557, Paris, France.
  • Slama A; Biochemical department, Bicêtre Hospital, Assistance Publique Hôpitaux de Paris, Le Kremlin Bicêtre, France.
  • Ioos C; Neuropediatric department, Raymond Poincaré Hospital, Garches, France.
  • Desguerre I; Neurology department, Necker Enfants Malades Hospital and Paris Descartes University, Paris, France.
  • Lebre AS; Genetic and Biological department, Reims University, Maison Blanche Hospital, F-51092, Reims, France.
  • de Lonlay P; Reference center for inherited metabolic diseases, Necker Enfants-Malades Hospital, Assistance Publique Hôpitaux de Paris, Imagine Institute, Paris Descartes University, Paris, France.
  • Christa L; Metabolomic and proteomic Biochemical department, Necker Enfants-Malades Hospital, Paris Descartes University, Paris, France. christablr@aol.com.
J Inherit Metab Dis ; 41(1): 129-139, 2018 01.
Article em En | MEDLINE | ID: mdl-28924877
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Análise Mutacional de DNA / Monoaminas Biogênicas / Encefalopatias Metabólicas Congênitas / Perfilação da Expressão Gênica Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2018 Tipo de documento: Article País de afiliação: França
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Análise Mutacional de DNA / Monoaminas Biogênicas / Encefalopatias Metabólicas Congênitas / Perfilação da Expressão Gênica Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2018 Tipo de documento: Article País de afiliação: França