Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.

Autor: Abu Bakar N; Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Pathology, Selayang Hospital, Selangor, Ministry of Health Malaysia, Putrajaya, Malaysia., Ashikov A; Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Brum JM; Department of Clinical Pathology, The Sarah Network of Rehabilitation Hospitals, Brasilia, Brazil., Smeets R; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., Kersten M; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., Huijben K; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., Keng WT; Genetics Department, Kuala Lumpur Hospital, Kuala Lumpur, Ministry of Health Malaysia, Putrajaya, Malaysia., Speck-Martins CE; Genetic Unit, Sarah Network of Hospitals, Brasilia, Brazil., de Carvalho DR; Genetic Unit, Sarah Network of Hospitals, Brasilia, Brazil., de Rizzo IMPO; Genetic Unit, Sarah Network of Hospitals, Brasilia, Brazil., de Mello WD; Genetic Unit, Sarah Network of Hospitals, Brasilia, Brazil., Heiner-Fokkema R; Department of Laboratory Medicine, UMC Groningen, Groningen, The Netherlands., Gorman K; Pediatric Neurology, Children's Health Ireland (CHI), Dublin, Ireland., Grunewald S; Metabolic Department, Great Ormond Street Hospital NHS Foundation Trust Institute of Child Health, University College London, London, UK., Michelakakis H; Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece., Moraitou M; Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece., Martinelli D; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Research Hospital, Rome, Italy., van Scherpenzeel M; Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Janssen M; Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands., de Boer L; Department of Pediatrics, Radboud University Medical Center, Nijmegen, The Netherlands., van den Heuvel LP; Department of Pediatrics, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands., Thiel C; Center for Child and Adolescent Medicine, Kinderheilkunde I, University of Heidelberg, Heidelberg, Germany., Lefeber DJ; Department of Neurology, Translational Metabolic Laboratory, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2022 Jul; Vol. 45 (4), pp. 769-781. Date of Electronic Publication: 2022 Mar 28.