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Long term outcome of MPI-CDG patients on D-mannose therapy.
Girard, Muriel; Douillard, Claire; Debray, Dominique; Lacaille, Florence; Schiff, Manuel; Vuillaumier-Barrot, Sandrine; Dupré, Thierry; Fabre, Monique; Damaj, Lena; Kuster, Alice; Torre, Stéphanie; Mention, Karine; McLin, Valérie; Dobbelaere, Dries; Borgel, Delphine; Bauchard, Eric; Seta, Nathalie; Bruneel, Arnaud; De Lonlay, Pascale.
Afiliação
  • Girard M; Paediatic Liver Unit, National Reference Center for Biliary Atresia and Genetic Cholestasis and French Network for Rare Liver Disease (Filfoie) Necker-Enfants-Malades University Hospital, APHP, Paris, France.
  • Douillard C; Inserm U1151, Institut Necker Enfants-Malades, Paris, France.
  • Debray D; Université de Paris, Paris, France.
  • Lacaille F; Endocrinology and Metabolism department, Reference Metabolism Center of inborn metabolic diseases, Lille University Hospital, Paris, France.
  • Schiff M; Paediatic Liver Unit, National Reference Center for Biliary Atresia and Genetic Cholestasis and French Network for Rare Liver Disease (Filfoie) Necker-Enfants-Malades University Hospital, APHP, Paris, France.
  • Vuillaumier-Barrot S; Université de Paris, Paris, France.
  • Dupré T; Department of Gastroenterology-Hepatology-Nutrition, Necker-Enfants-Malades University Hospital, APHP, Paris, France.
  • Fabre M; Université de Paris, Paris, France.
  • Damaj L; Reference Center of inherited Metabolic Diseases, Necker-Enfants-Malades University hospital, APHP, Paris, France.
  • Kuster A; Inserm U1163, Institut Imagine, Paris, France.
  • Torre S; Université de Paris, Paris, France.
  • Mention K; Biochemistry and Genetic Department, AP-HP, Bichat Hospital, Paris, France.
  • McLin V; Centre de recherche sur l'inflammation, Inserm U1149, Paris, France.
  • Dobbelaere D; Université de Paris, Paris, France.
  • Borgel D; Biochemistry and Genetic Department, AP-HP, Bichat Hospital, Paris, France.
  • Bauchard E; Centre de recherche sur l'inflammation, Inserm U1149, Paris, France.
  • Seta N; Department of Pathology, Necker-Enfants-Malades University hospital, APHP, Université de Paris, Paris, France.
  • Bruneel A; Department of Pediatrics, Competence Center of Inherited Metabolic Disorders, Rennes Hospital, Rennes, France.
  • De Lonlay P; Department of Pediatric Intensive care, Competence Center of Inherited Metabolic Disorders, Nantes Hospital, Nantes, France.
J Inherit Metab Dis ; 43(6): 1360-1369, 2020 11.
Article em En | MEDLINE | ID: mdl-33098580
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Defeitos Congênitos da Glicosilação / Manose / Manose-6-Fosfato Isomerase Tipo de estudo: Etiology_studies / Observational_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2020 Tipo de documento: Article País de afiliação: França País de publicação: Estados Unidos
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Defeitos Congênitos da Glicosilação / Manose / Manose-6-Fosfato Isomerase Tipo de estudo: Etiology_studies / Observational_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2020 Tipo de documento: Article País de afiliação: França País de publicação: Estados Unidos