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Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?
Witters, Peter; Honzik, Tomas; Bauchart, Eric; Altassan, Ruqaiah; Pascreau, Tiffany; Bruneel, Arnaud; Vuillaumier, Sandrine; Seta, Nathalie; Borgel, Delphine; Matthijs, Gert; Jaeken, Jaak; Meersseman, Wouter; Cassiman, David; Pascale de, Lonlay; Morava, Eva.
Affiliation
  • Witters P; Pediatrics and Metabolic Center, University Hospitals Leuven, Leuven, Belgium. peter.witters@uzleuven.be.
  • Honzik T; Department of Development and Regeneration, Faculty of Medicine, KU Leuven, Leuven, Belgium. peter.witters@uzleuven.be.
  • Bauchart E; Department of Pediatrics, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
  • Altassan R; AP-HP, Necker University Hospital, French National Reference Centre for Inborn Errors of Metabolism, Paris, France.
  • Pascreau T; Medical Genetic Department, Montréal Children Hospital, McGill University, Montreal, Canada.
  • Bruneel A; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium.
  • Vuillaumier S; Department of Medical Genetics, King Faisal Specialist and Research Hospital, Riyadh, Saudi Arabia.
  • Seta N; AP-HP, Hôpital Necker, Service d'Hématologie Biologique, Paris, France.
  • Borgel D; UMR_S1176, INSERM, Univ. Paris-Sud, Université Paris-Saclay, Le Kremlin-Bicêtre, France.
  • Matthijs G; Biochemistry Department, AP-HP, Bichat Hospital, Paris, France.
  • Jaeken J; UMR INSERM 1193, Faculty of Pharmacy, Paris-Sud University, Paris, France.
  • Meersseman W; Biochemistry Department, AP-HP, Bichat Hospital, Paris, France.
  • Cassiman D; Biochemistry Department, AP-HP, Bichat Hospital, Paris, France.
  • Pascale de L; Biochemistry Department, Paris Descartes University, Bichat Hospital, Paris, France.
  • Morava E; AP-HP, Hôpital Necker, Service d'Hématologie Biologique, Paris, France.
Genet Med ; 21(5): 1181-1188, 2019 05.
Article in En | MEDLINE | ID: mdl-30293989

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phosphotransferases (Phosphomutases) / Congenital Disorders of Glycosylation Type of study: Observational_studies / Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Affiliation country: Belgium

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phosphotransferases (Phosphomutases) / Congenital Disorders of Glycosylation Type of study: Observational_studies / Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Affiliation country: Belgium