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Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening.
Hajji, Hela; Imbard, Apolline; Spraul, Anne; Taibi, Ludmia; Barbier, Valérie; Habes, Dalila; Brassier, Anaïs; Arnoux, Jean-Baptiste; Bouchereau, Juliette; Pichard, Samia; Sissaoui, Samira; Lacaille, Florence; Girard, Muriel; Debray, Dominique; de Lonlay, Pascale; Schiff, Manuel.
Afiliação
  • Hajji H; Reference Center for Inborn Error of Metabolism, Department of Pediatrics, Necker-Enfants Malades Hospital, APHP, Université Paris Cité, Filière G2M, Paris, France.
  • Imbard A; Metabolic Biochemistry Laboratory, Necker-Enfants Malades Hospital, APHP, Paris, France.
  • Spraul A; LYPSIS, Pharmacy University, Paris-Saclay University, Chatenay-Malabry,France.
  • Taibi L; Biochemistry Laboratory, Bicêtre Hosiptal, APHP, Le Kremlin-Bicêtre, France.
  • Barbier V; Biochemistry Laboratory, Robert Debré Hospital, APHP, Paris, France.
  • Habes D; Reference Center for Inborn Error of Metabolism, Department of Pediatrics, Necker-Enfants Malades Hospital, APHP, Université Paris Cité, Filière G2M, Paris, France.
  • Brassier A; Pediatric Hepatology, Bicêtre Hospital, APHP, Le Kremlin-Bicêtre, France.
  • Arnoux JB; Reference Center for Inborn Error of Metabolism, Department of Pediatrics, Necker-Enfants Malades Hospital, APHP, Université Paris Cité, Filière G2M, Paris, France.
  • Bouchereau J; Reference Center for Inborn Error of Metabolism, Department of Pediatrics, Necker-Enfants Malades Hospital, APHP, Université Paris Cité, Filière G2M, Paris, France.
  • Pichard S; Reference Center for Inborn Error of Metabolism, Department of Pediatrics, Necker-Enfants Malades Hospital, APHP, Université Paris Cité, Filière G2M, Paris, France.
  • Sissaoui S; Reference Center for Inborn Error of Metabolism, Department of Pediatrics, Necker-Enfants Malades Hospital, APHP, Université Paris Cité, Filière G2M, Paris, France.
  • Lacaille F; Pediatric Gastroenterology-Nutrition and Hepatology, Necker-Enfants Malades Hospital, APHP, Paris, France.
  • Girard M; Pediatric Gastroenterology-Nutrition and Hepatology, Necker-Enfants Malades Hospital, APHP, Paris, France.
  • Debray D; Pediatric Gastroenterology-Nutrition and Hepatology, Necker-Enfants Malades Hospital, APHP, Paris, France.
  • de Lonlay P; Pediatric Gastroenterology-Nutrition and Hepatology, Necker-Enfants Malades Hospital, APHP, Paris, France.
  • Schiff M; Reference Center for Inborn Error of Metabolism, Department of Pediatrics, Necker-Enfants Malades Hospital, APHP, Université Paris Cité, Filière G2M, Paris, France.
Mol Genet Metab Rep ; 33: 100933, 2022 Dec.
Article em En | MEDLINE | ID: mdl-36393896
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Screening_studies Idioma: En Revista: Mol Genet Metab Rep Ano de publicação: 2022 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 Tipo de estudo: Diagnostic_studies / Screening_studies Idioma: En Revista: Mol Genet Metab Rep Ano de publicação: 2022 Tipo de documento: Article País de afiliação: França