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Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.

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Title: Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
Authors: Maia N; Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto, 4050-466 Porto, Portugal; Unit for Multidisciplinary Research in Biomedicine and Laboratory for Integrative and Translational Research in Population Health, Institute of Biomedical Sciences Abel Salazar, University of Porto, 4050-313 Porto, Portugal., Potelle S; Laboratory of Physiological Chemistry, de Duve Institute, 1200 Brussels, Belgium; WELBIO, 1200 Brussels, Belgium., Yildirim H; Neurogenetics Research Group, Reproduction Genetics and Regenerative Medicine Research Cluster, Vrije Universiteit Brussel, 1090 Brussels, Belgium., Duvet S; Univ. Lille, CNRS, UMR 8576-UGSF-Unit. de Glycobiologie Structurale et Fonctionnelle, 59000 Lille, France., Akula SK; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA., Schulz C; Univ. Lille, CNRS, UMR 8576-UGSF-Unit. de Glycobiologie Structurale et Fonctionnelle, 59000 Lille, France., Wiame E; Laboratory of Physiological Chemistry, de Duve Institute, 1200 Brussels, Belgium; WELBIO, 1200 Brussels, Belgium., Gheldof A; Centre for Medical Genetics, UZ Brussel, 1090 Brussels, Belgium; Reproduction and Genetics Research Group, Vrije Universiteit Brussel, 1090 Brussels, Belgium., O'Kane K; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA., Lai A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA., Sermon K; Reproduction and Genetics Research Group, Vrije Universiteit Brussel, 1090 Brussels, Belgium., Proisy M; CHU Brest, Radiology Department, Brest University, 29609 Brest Cedex, France., Loget P; Department of Pathology, Rennes University Hospital, 35000 Rennes, France., Attié-Bitach T; APHP, Embryofœtopathologie, Service d'Histologie-Embryologie-Cytogénétique, Hôpital Universitaire Necker-Enfants Malades, 75015 Paris, France; Université de Paris, Imagine Institute, INSERM UMR 1163, 75015 Paris, France., Quelin C; Clinical Genetics Department, Rennes University Hospital, 35000 Rennes, France., Fortuna AM; Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto, 4050-466 Porto, Portugal; Unit for Multidisciplinary Research in Biomedicine and Laboratory for Integrative and Translational Research in Population Health, Institute of Biomedical Sciences Abel Salazar, University of Porto, 4050-313 Porto, Portugal., Soares AR; Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto, 4050-466 Porto, Portugal., de Brouwer APM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 Nijmegen, the Netherlands., Van Schaftingen E; Laboratory of Physiological Chemistry, de Duve Institute, 1200 Brussels, Belgium; WELBIO, 1200 Brussels, Belgium., Nassogne MC; Department of Pediatric Neurology, Cliniques Universitaires Saint-Luc, UCLouvain, 1200 Brussels, Belgium; Institute Of NeuroScience, Clinical Neuroscience, UCLouvain, 1200 Brussels, Belgium., Walsh CA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA., Stouffs K; Centre for Medical Genetics, UZ Brussel, 1090 Brussels, Belgium; Reproduction and Genetics Research Group, Vrije Universiteit Brussel, 1090 Brussels, Belgium., Jorge P; Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto, 4050-466 Porto, Portugal; Unit for Multidisciplinary Research in Biomedicine and Laboratory for Integrative and Translational Research in Population Health, Institute of Biomedical Sciences Abel Salazar, University of Porto, 4050-313 Porto, Portugal., Jansen AC; Neurogenetics Research Group, Reproduction Genetics and Regenerative Medicine Research Cluster, Vrije Universiteit Brussel, 1090 Brussels, Belgium; Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel, 1090 Brussels, Belgium. Electronic address: anna.jansen@vub.be., Foulquier F; Univ. Lille, CNRS, UMR 8576-UGSF-Unit. de Glycobiologie Structurale et Fonctionnelle, 59000 Lille, France. Electronic address: francois.foulquier@univ-lille.fr.
Source: American journal of human genetics [Am J Hum Genet] 2022 Feb 03; Vol. 109 (2), pp. 345-360. Date of Electronic Publication: 2022 Jan 18.
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
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  Data: <searchLink fieldCode="AU" term="%22Maia+N%22">Maia N</searchLink>; Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto, 4050-466 Porto, Portugal; Unit for Multidisciplinary Research in Biomedicine and Laboratory for Integrative and Translational Research in Population Health, Institute of Biomedical Sciences Abel Salazar, University of Porto, 4050-313 Porto, Portugal.<br /><searchLink fieldCode="AU" term="%22Potelle+S%22">Potelle S</searchLink>; Laboratory of Physiological Chemistry, de Duve Institute, 1200 Brussels, Belgium; WELBIO, 1200 Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Yildirim+H%22">Yildirim H</searchLink>; Neurogenetics Research Group, Reproduction Genetics and Regenerative Medicine Research Cluster, Vrije Universiteit Brussel, 1090 Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Duvet+S%22">Duvet S</searchLink>; Univ. Lille, CNRS, UMR 8576-UGSF-Unit. de Glycobiologie Structurale et Fonctionnelle, 59000 Lille, France.<br /><searchLink fieldCode="AU" term="%22Akula+SK%22">Akula SK</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Schulz+C%22">Schulz C</searchLink>; Univ. Lille, CNRS, UMR 8576-UGSF-Unit. de Glycobiologie Structurale et Fonctionnelle, 59000 Lille, France.<br /><searchLink fieldCode="AU" term="%22Wiame+E%22">Wiame E</searchLink>; Laboratory of Physiological Chemistry, de Duve Institute, 1200 Brussels, Belgium; WELBIO, 1200 Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Gheldof+A%22">Gheldof A</searchLink>; Centre for Medical Genetics, UZ Brussel, 1090 Brussels, Belgium; Reproduction and Genetics Research Group, Vrije Universiteit Brussel, 1090 Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22O'Kane+K%22">O'Kane K</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Lai+A%22">Lai A</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Sermon+K%22">Sermon K</searchLink>; Reproduction and Genetics Research Group, Vrije Universiteit Brussel, 1090 Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Proisy+M%22">Proisy M</searchLink>; CHU Brest, Radiology Department, Brest University, 29609 Brest Cedex, France.<br /><searchLink fieldCode="AU" term="%22Loget+P%22">Loget P</searchLink>; Department of Pathology, Rennes University Hospital, 35000 Rennes, France.<br /><searchLink fieldCode="AU" term="%22Attié-Bitach+T%22">Attié-Bitach T</searchLink>; APHP, Embryofœtopathologie, Service d'Histologie-Embryologie-Cytogénétique, Hôpital Universitaire Necker-Enfants Malades, 75015 Paris, France; Université de Paris, Imagine Institute, INSERM UMR 1163, 75015 Paris, France.<br /><searchLink fieldCode="AU" term="%22Quelin+C%22">Quelin C</searchLink>; Clinical Genetics Department, Rennes University Hospital, 35000 Rennes, France.<br /><searchLink fieldCode="AU" term="%22Fortuna+AM%22">Fortuna AM</searchLink>; Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto, 4050-466 Porto, Portugal; Unit for Multidisciplinary Research in Biomedicine and Laboratory for Integrative and Translational Research in Population Health, Institute of Biomedical Sciences Abel Salazar, University of Porto, 4050-313 Porto, Portugal.<br /><searchLink fieldCode="AU" term="%22Soares+AR%22">Soares AR</searchLink>; Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto, 4050-466 Porto, Portugal.<br /><searchLink fieldCode="AU" term="%22de+Brouwer+APM%22">de Brouwer APM</searchLink>; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Van+Schaftingen+E%22">Van Schaftingen E</searchLink>; Laboratory of Physiological Chemistry, de Duve Institute, 1200 Brussels, Belgium; WELBIO, 1200 Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Nassogne+MC%22">Nassogne MC</searchLink>; Department of Pediatric Neurology, Cliniques Universitaires Saint-Luc, UCLouvain, 1200 Brussels, Belgium; Institute Of NeuroScience, Clinical Neuroscience, UCLouvain, 1200 Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Walsh+CA%22">Walsh CA</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Stouffs+K%22">Stouffs K</searchLink>; Centre for Medical Genetics, UZ Brussel, 1090 Brussels, Belgium; Reproduction and Genetics Research Group, Vrije Universiteit Brussel, 1090 Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Jorge+P%22">Jorge P</searchLink>; Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto, 4050-466 Porto, Portugal; Unit for Multidisciplinary Research in Biomedicine and Laboratory for Integrative and Translational Research in Population Health, Institute of Biomedical Sciences Abel Salazar, University of Porto, 4050-313 Porto, Portugal.<br /><searchLink fieldCode="AU" term="%22Jansen+AC%22">Jansen AC</searchLink>; Neurogenetics Research Group, Reproduction Genetics and Regenerative Medicine Research Cluster, Vrije Universiteit Brussel, 1090 Brussels, Belgium; Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel, 1090 Brussels, Belgium. Electronic address: anna.jansen@vub.be.<br /><searchLink fieldCode="AU" term="%22Foulquier+F%22">Foulquier F</searchLink>; Univ. Lille, CNRS, UMR 8576-UGSF-Unit. de Glycobiologie Structurale et Fonctionnelle, 59000 Lille, France. Electronic address: francois.foulquier@univ-lille.fr.
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