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Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient.
Vuillaumier-Barrot, Sandrine; Schiff, Manuel; Mattioli, Francesca; Schaefer, Elise; Dupont, Audrey; Dancourt, Julia; Dupré, Thierry; Couvineau, Alain; de Baulny, Hélène Ogier; de Lonlay, Pascale; Seta, Nathalie; Moore, Stuart; Chantret, Isabelle.
Afiliação
  • Vuillaumier-Barrot S; AP-HP, Hôpital Bichat, Biochimie, Paris, France. Sandrine.vuillaumier@aphp.fr.
  • Schiff M; APHP, Robert Debré Hospital, Reference Center for Inborn Errors of Metabolism, UMR1141, PROTECT, Université Paris Diderot, Sorbonne Paris Cité, Paris, France.
  • Mattioli F; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964, CNRS UMR 7104, Université de Strasbourg, 67400, Illkirch-Graffenstaden, France.
  • Schaefer E; Service de Génétique Médicale, CHU de Hautepierre, avenue Molière, Institut de Génétique Médicale d'Alsace, 67098, Strasbourg, France.
  • Dupont A; Intensive Care Unit, CHU Lenval, 57 avenue de la Californie, 06200, Nice, France.
  • Dancourt J; INSERM, U1149, Centre de Recherche sur l'Inflammation (CRI) and Université Paris 7 Denis Diderot, BP 416, 75018, Paris, France.
  • Dupré T; AP-HP, Hôpital Bichat, Biochimie, Paris, France.
  • Couvineau A; INSERM, U1149, Centre de Recherche sur l'Inflammation (CRI) and Université Paris 7 Denis Diderot, BP 416, 75018, Paris, France.
  • de Baulny HO; APHP, Robert Debré Hospital, Reference Center for Inborn Errors of Metabolism, UMR1141, PROTECT, Université Paris Diderot, Sorbonne Paris Cité, Paris, France.
  • de Lonlay P; AP-HP, Necker-Enfants Malades Hospital, Reference Center for Inborn Errors of Metabolism, metabERN, G2M, IMAGINE Institute, University Paris Descartes-Sorbonne Paris Cité, Paris, France.
  • Seta N; AP-HP, Hôpital Bichat, Biochimie, Paris, France.
  • Moore S; INSERM, U1149, Centre de Recherche sur l'Inflammation (CRI) and Université Paris 7 Denis Diderot, BP 416, 75018, Paris, France.
  • Chantret I; INSERM, U1149, Centre de Recherche sur l'Inflammation (CRI) and Université Paris 7 Denis Diderot, BP 416, 75018, Paris, France.
Pediatr Res ; 85(3): 384-389, 2019 02.
Article em En | MEDLINE | ID: mdl-30420707
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Infant / Male País/Região como assunto: Europa Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Infant / Male País/Região como assunto: Europa Idioma: En Ano de publicação: 2019 Tipo de documento: Article