MAN1B1 Deficiency: An Unexpected CDG-II

• Daisy Rymen ,

  Contributed equally to this work with: Daisy Rymen, Romain Peanne

  Affiliations Center for Human Genetics, University of Leuven, Leuven, Belgium, Center for Metabolic Diseases, University Hospital Gasthuisberg, Leuven, Belgium

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• Romain Peanne ,

  Contributed equally to this work with: Daisy Rymen, Romain Peanne

  Affiliation Center for Human Genetics, University of Leuven, Leuven, Belgium

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• María B. Millón,

  Affiliation Centro de Estudio Metabalopatías Congénitas, Faculdad de Ciencias Médicas, Universidad Nacional de Córdoba, Hospital de Niños de la Santísima Trinidad, Córdoba, Argentina

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• Valérie Race,

  Affiliation Center for Human Genetics, University of Leuven, Leuven, Belgium

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• Luisa Sturiale,

  Affiliation Institute of Chemistry and Technology of Polymers, CNR, Catania, Italy

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• Domenico Garozzo,

  Affiliation Institute of Chemistry and Technology of Polymers, CNR, Catania, Italy

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• Philippa Mills,

  Affiliation Clinical & Molecular Genetics Unit, Institute of Child Health, University College and Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom

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• Peter Clayton,

  Affiliation Clinical & Molecular Genetics Unit, Institute of Child Health, University College and Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom

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• Carla G. Asteggiano,

  Affiliation Centro de Estudio Metabalopatías Congénitas, Faculdad de Ciencias Médicas, Universidad Nacional de Córdoba, Hospital de Niños de la Santísima Trinidad, Córdoba, Argentina

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• Dulce Quelhas,

  Affiliation Unidade de Genética Médica, Departamento de Genética Humana, Centro de Genética Médica - Dr. Jacinto Magalhães - INSA, IP. Porto, Portugal

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• Ali Cansu,

  Affiliation Gazi University Faculty of Medicine, Department of Paediatric Neurology, Besevler/Ankara, Turkey

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• Esmeralda Martins,

  Affiliation Unidade de Doenças Metabólicas, Hospital de Crianças Maria Pia, Porto, Portugal

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• Marie-Cécile Nassogne,

  Affiliation Université Catholique de Louvain, Cliniques Universitaires Saint-Luc, Brussels, Belgium

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• Miguel Gonçalves-Rocha,

  Affiliation Unidade de Genética Médica, Departamento de Genética Humana, Centro de Genética Médica - Dr. Jacinto Magalhães - INSA, IP. Porto, Portugal

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• Haluk Topaloglu,

  Affiliation Department of Child Neurology, Hacettepe University Children's Hospital, Ankara, Turkey

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• Jaak Jaeken,

  Affiliation Center for Metabolic Diseases, University Hospital Gasthuisberg, Leuven, Belgium

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• François Foulquier,

  Affiliation Structural and Functional Glycobiology Unit, UMR CNRS/USTL 8576, IFR 147, University of Lille 1, Villeneuve d'Ascq, France

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•  [ ... ],
• Gert Matthijs

  * E-mail: gert.matthijs@med.kuleuven.be

  Affiliation Center for Human Genetics, University of Leuven, Leuven, Belgium

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