About the Authors
- Daisy Rymen
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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
- Romain Peanne
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Contributed equally to this work with: Daisy Rymen, Romain Peanne
Affiliation Center for Human Genetics, University of Leuven, Leuven, Belgium
- María B. Millón
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Affiliation Centro de Estudio Metabalopatías Congénitas, Faculdad de Ciencias Médicas, Universidad Nacional de Córdoba, Hospital de Niños de la Santísima Trinidad, Córdoba, Argentina
- Valérie Race
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Affiliation Center for Human Genetics, University of Leuven, Leuven, Belgium
- Luisa Sturiale
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Affiliation Institute of Chemistry and Technology of Polymers, CNR, Catania, Italy
- Domenico Garozzo
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Affiliation Institute of Chemistry and Technology of Polymers, CNR, Catania, Italy
- Philippa Mills
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Affiliation Clinical & Molecular Genetics Unit, Institute of Child Health, University College and Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom
- Peter Clayton
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Affiliation Clinical & Molecular Genetics Unit, Institute of Child Health, University College and Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom
- Carla G. Asteggiano
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Affiliation Centro de Estudio Metabalopatías Congénitas, Faculdad de Ciencias Médicas, Universidad Nacional de Córdoba, Hospital de Niños de la Santísima Trinidad, Córdoba, Argentina
- Dulce Quelhas
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Affiliation Unidade de Genética Médica, Departamento de Genética Humana, Centro de Genética Médica - Dr. Jacinto Magalhães - INSA, IP. Porto, Portugal
- Ali Cansu
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Affiliation Gazi University Faculty of Medicine, Department of Paediatric Neurology, Besevler/Ankara, Turkey
- Esmeralda Martins
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Affiliation Unidade de Doenças Metabólicas, Hospital de Crianças Maria Pia, Porto, Portugal
- Marie-Cécile Nassogne
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Affiliation Université Catholique de Louvain, Cliniques Universitaires Saint-Luc, Brussels, Belgium
- Miguel Gonçalves-Rocha
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Affiliation Unidade de Genética Médica, Departamento de Genética Humana, Centro de Genética Médica - Dr. Jacinto Magalhães - INSA, IP. Porto, Portugal
- Haluk Topaloglu
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Affiliation Department of Child Neurology, Hacettepe University Children's Hospital, Ankara, Turkey
- Jaak Jaeken
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Affiliation Center for Metabolic Diseases, University Hospital Gasthuisberg, Leuven, Belgium
- François Foulquier
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Affiliation Structural and Functional Glycobiology Unit, UMR CNRS/USTL 8576, IFR 147, University of Lille 1, Villeneuve d'Ascq, France
- Gert Matthijs
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* E-mail: gert.matthijs@med.kuleuven.be
Affiliation Center for Human Genetics, University of Leuven, Leuven, Belgium
Competing Interests
The authors have declared that no competing interests exist.
Author Contributions
Conceived and designed the experiments: DR RP MBM FF. Performed the experiments: DR RP MBM FF. Analyzed the data: DR RP MBM FF. Contributed reagents/materials/analysis tools: CGA. Wrote the paper: DR RP JJ FF GM. Carried out the glycans analysis and the interpretation of the results: LS DG PM PC. Involved in the clinical evaluation and the follow-up of the patients: DQ AC EM MCN MGR HT. Carried out the molecular genetic studies and the interpretation of the results: DR VR GM. Collected and compared clinical data: DR JJ.