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Neonatal factors related to survival and intellectual and developmental outcome of patients with early-onset urea cycle disorders.
Pontoizeau, Clément; Roda, Célina; Arnoux, Jean-Baptiste; Vignolo-Diard, Patricia; Brassier, Anais; Habarou, Florence; Barbier, Valérie; Grisel, Coraline; Abi-Warde, Marie-Thérèse; Boddaert, Nathalie; Kuster, Alice; Servais, Aude; Kaminska, Anna; Hennequin, Carole; Dupic, Laurent; Lesage, Fabrice; Touati, Guy; Valayannopoulos, Vassili; Chadefaux-Vekemans, Bernadette; Oualha, Mehdi; Eisermann, Monika; Ottolenghi, Chris; de Lonlay, Pascale.
Afiliación
  • Pontoizeau C; Reference Center of Inherited Metabolic Diseases, Necker Enfants Malades Hospital, APHP, Imagine Institute, Paris Descartes University, Paris, France; Metabolomics Unit, Necker Enfants Malades Hospital, AP-HP, Paris Descartes University, Paris, France. Electronic address: clement.pontoizeau@aphp.fr.
  • Roda C; Université de Paris, CRESS, INSERM, INRA, HERA team (Health Environmental Risk Assessment), F-75004 Paris, France.
  • Arnoux JB; Reference Center of Inherited Metabolic Diseases, Necker Enfants Malades Hospital, APHP, Imagine Institute, Paris Descartes University, Paris, France.
  • Vignolo-Diard P; Neurophysiology Unit, AP-HP, Necker Enfants Malades Hospital, Paris, France.
  • Brassier A; Reference Center of Inherited Metabolic Diseases, Necker Enfants Malades Hospital, APHP, Imagine Institute, Paris Descartes University, Paris, France.
  • Habarou F; Reference Center of Inherited Metabolic Diseases, Necker Enfants Malades Hospital, APHP, Imagine Institute, Paris Descartes University, Paris, France; Metabolomics Unit, Necker Enfants Malades Hospital, AP-HP, Paris Descartes University, Paris, France.
  • Barbier V; Reference Center of Inherited Metabolic Diseases, Necker Enfants Malades Hospital, APHP, Imagine Institute, Paris Descartes University, Paris, France.
  • Grisel C; Reference Center of Inherited Metabolic Diseases, Necker Enfants Malades Hospital, APHP, Imagine Institute, Paris Descartes University, Paris, France.
  • Abi-Warde MT; Reference Center of Inherited Metabolic Diseases, Necker Enfants Malades Hospital, APHP, Imagine Institute, Paris Descartes University, Paris, France.
  • Boddaert N; Department of Pediatric Radiology, Necker Enfants Malades Hospital, AP-HP, Paris Descartes University, PRES Sorbonne Paris Cité, INSERM U1000, Institut Imagine, Paris, France.
  • Kuster A; Pediatric Critical Care Unit, Femme-Enfants-Adolescents Hospital, Nantes University, Nantes, France.
  • Servais A; Reference Center of Inherited Metabolic Diseases, Necker Enfants Malades Hospital, APHP, Imagine Institute, Paris Descartes University, Paris, France; Department of Nephrology, Transplantation, Necker Enfants Malades Hospital, AP-HP, Paris Descartes University, Paris, France.
  • Kaminska A; Neurophysiology Unit, AP-HP, Necker Enfants Malades Hospital, Paris, France.
  • Hennequin C; Biochemistry, Necker Enfants Malades Hospital, AP-HP, Paris Descartes University, Paris, France.
  • Dupic L; Pediatric Critical Care Unit, Necker Enfants Malades Hospital, AP-HP, Paris Descartes University, Paris, France.
  • Lesage F; Pediatric Critical Care Unit, Necker Enfants Malades Hospital, AP-HP, Paris Descartes University, Paris, France.
  • Touati G; Reference Center of Inherited Metabolic Diseases, Necker Enfants Malades Hospital, APHP, Imagine Institute, Paris Descartes University, Paris, France.
  • Valayannopoulos V; Reference Center of Inherited Metabolic Diseases, Necker Enfants Malades Hospital, APHP, Imagine Institute, Paris Descartes University, Paris, France.
  • Chadefaux-Vekemans B; Reference Center of Inherited Metabolic Diseases, Necker Enfants Malades Hospital, APHP, Imagine Institute, Paris Descartes University, Paris, France; Metabolomics Unit, Necker Enfants Malades Hospital, AP-HP, Paris Descartes University, Paris, France.
  • Oualha M; Pediatric Critical Care Unit, Necker Enfants Malades Hospital, AP-HP, Paris Descartes University, Paris, France.
  • Eisermann M; Neurophysiology Unit, AP-HP, Necker Enfants Malades Hospital, Paris, France.
  • Ottolenghi C; Reference Center of Inherited Metabolic Diseases, Necker Enfants Malades Hospital, APHP, Imagine Institute, Paris Descartes University, Paris, France; Metabolomics Unit, Necker Enfants Malades Hospital, AP-HP, Paris Descartes University, Paris, France.
  • de Lonlay P; Reference Center of Inherited Metabolic Diseases, Necker Enfants Malades Hospital, APHP, Imagine Institute, Paris Descartes University, Paris, France.
Mol Genet Metab ; 130(2): 110-117, 2020 06.
Article en En | MEDLINE | ID: mdl-32273051
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ornitina Carbamoiltransferasa / Argininosuccinato Sintasa / Carbamoil-Fosfato Sintasa (Amoniaco) / Discapacidades del Desarrollo / Mortalidad Infantil / Trastornos Innatos del Ciclo de la Urea / Discapacidad Intelectual Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Infant / Male / Newborn País/Región como asunto: Europa Idioma: En Año: 2020 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ornitina Carbamoiltransferasa / Argininosuccinato Sintasa / Carbamoil-Fosfato Sintasa (Amoniaco) / Discapacidades del Desarrollo / Mortalidad Infantil / Trastornos Innatos del Ciclo de la Urea / Discapacidad Intelectual Tipo de estudio: Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Infant / Male / Newborn País/Región como asunto: Europa Idioma: En Año: 2020 Tipo del documento: Article