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Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies.
Haouari, Walid; Dubail, Johanne; Lounis-Ouaras, Samra; Prada, Pierre; Bennani, Rizk; Roseau, Charles; Huber, Céline; Afenjar, Alexandra; Colin, Estelle; Vuillaumier-Barrot, Sandrine; Seta, Nathalie; Foulquier, François; Poüs, Christian; Cormier-Daire, Valérie; Bruneel, Arnaud.
Affiliation
  • Haouari W; INSERM UMR1193, Université Paris-Saclay, Châtenay-Malabry, France.
  • Dubail J; Department of Clinical Genetics and Reference Centre for Constitutional Bone Diseases, INSERM U1163, Université de Paris, Imagine Institute, Necker-Enfants Malades Hospital, AP-HP, Paris, France.
  • Lounis-Ouaras S; INSERM UMR1193, Université Paris-Saclay, Châtenay-Malabry, France.
  • Prada P; AP-HP, Biochimie-Hormonologie, Hôpital Antoine Béclère, Clamart, France.
  • Bennani R; AP-HP, Biochimie Métabolique et Cellulaire, Hôpital Bichat-Claude Bernard, Paris, France.
  • Roseau C; AP-HP, Biochimie Métabolique et Cellulaire, Hôpital Bichat-Claude Bernard, Paris, France.
  • Huber C; INSERM UMR1193, Université Paris-Saclay, Châtenay-Malabry, France.
  • Afenjar A; Department of Clinical Genetics and Reference Centre for Constitutional Bone Diseases, INSERM U1163, Université de Paris, Imagine Institute, Necker-Enfants Malades Hospital, AP-HP, Paris, France.
  • Colin E; Département de Génétique et Embryologie Médicale, Sorbonne Universités, Centre de Référence Malformations et Maladies Congénitales du Cervelet et Déficiences Intellectuelles de Causes Rares, Hôpital Trousseau, AP-HP, Paris, France.
  • Vuillaumier-Barrot S; Department of Biochemistry and Genetics, University Hospital, Angers, France.
  • Seta N; MitoLab Team, Institut MitoVasc, UMR CNRS6015, INSERM U1083, Angers, France.
  • Foulquier F; AP-HP, Biochimie Métabolique et Cellulaire, Hôpital Bichat-Claude Bernard, Paris, France.
  • Poüs C; AP-HP, Biochimie Métabolique et Cellulaire, Hôpital Bichat-Claude Bernard, Paris, France.
  • Cormier-Daire V; Université de Paris, Paris, France.
  • Bruneel A; Université de Lille, CNRS, UMR 8576 - UGSF - Unité de Glycobiologie Structurale et Fonctionnelle, Lille, France.
J Inherit Metab Dis ; 43(6): 1349-1359, 2020 11.
Article in En | MEDLINE | ID: mdl-32700771

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Alpha-Globulins / Antiporters / Congenital Disorders of Glycosylation / Cation Transport Proteins / Nucleotide Transport Proteins / Golgi Apparatus Limits: Humans Language: En Journal: J Inherit Metab Dis Year: 2020 Document type: Article Affiliation country: Francia Country of publication: Estados Unidos

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Alpha-Globulins / Antiporters / Congenital Disorders of Glycosylation / Cation Transport Proteins / Nucleotide Transport Proteins / Golgi Apparatus Limits: Humans Language: En Journal: J Inherit Metab Dis Year: 2020 Document type: Article Affiliation country: Francia Country of publication: Estados Unidos