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Paper Details

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
J Inherit Metab Dis
83
2019
CDG, N, PMM2, PMM2-CDG, Phosphomannomutase 2, congenital disorder of N-glycosylation, neurological involvement, patients, phosphomannomutase, phosphomannomutase 2
Author NameAffiliation
Romain P??anne
Romain P??anne
Jaak Jaeken
Delphine BorgelINSERM U6, Universite Paris-Sud, CHU de Bicetre
Carlos R FerreiraNational Human Genome Research Institute, National Institutes of Health
Carlos R Ferreira
Hudson H FreezeSanford Children's Health Research Center, Sanford-Burnham-Prebys Medical Discovery Institute
Stephanie GrunewaldGreat Ormond Street Hospital and Institute of Child Health, University College London, NHS Trust
Dirk J LefeberRadboud University Medical Center
Tiffany Pascreau
Dulce QuelhasHospital Universitario Morales Meseguer, Universidad de Murcia
Dulce QuelhasUnidade de Bioquimica Genetica
Kimiyo RaymondMayo Clinic College of Medicine
Nathalie SetaBichat Hospital, Universite Paris Descartes
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