المؤلفون: Nuno Maia, Sven Potelle, Hamide Yildirim, Sandrine Duvet, Shyam K. Akula, Celine Schulz, Elsa Wiame, Alexander Gheldof, Katherine O’Kane, Abbe Lai, Karen Sermon, Maïa Proisy, Philippe Loget, Tania Attié-Bitach, Chloé Quelin, Ana Maria Fortuna, Ana Rita Soares, Arjan P.M. de Brouwer, Emile Van Schaftingen, Marie-Cécile Nassogne, Christopher A. Walsh, Katrien Stouffs, Paula Jorge, Anna C. Jansen, François Foulquier

المساهمون: Public Health Sciences, Faculty of Medicine and Pharmacy, Neurogenetics, Clinical sciences, Medical Genetics, Basic (bio-) Medical Sciences, Reproduction and Genetics, Centre for Medical Genetics, Mental Health and Wellbeing research group, Neuroprotection & Neuromodulation, Universidade do Minho = University of Minho [Braga], Unité de Glycobiologie Structurale et Fonctionnelle UMR 8576 (UGSF), Université de Lille-Centre National de la Recherche Scientifique (CNRS), Université de Lille, CNRS, Unité de Glycobiologie Structurale et Fonctionnelle (UGSF) - UMR 8576

المصدر: American Journal of Human Genetics, 109, 2, pp. 345-360
American Journal of Human Genetics, 109, 345-360
American Journal of Human Genetics
American Journal of Human Genetics, 2022, The American Journal of Human Genetics, 109, ⟨10.1016/j.ajhg.2021.12.010⟩

مصطلحات موضوعية: Male, Adolescent, Child, preschool, glycosylation, [SDV]Life Sciences [q-bio], Hamartoma, Hypothalamus, Oligosaccharides, Hamartoma/genetics, Brain Stem/metabolism, Congenital Disorders of Glycosylation, All institutes and research themes of the Radboud University Medical Center, Tongue, alpha-Mannosidase, Intellectual Disability, Cell Line, Tumor, Leukocytes, Genetics, Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase, Humans, Central Nervous System Cysts/genetics, Central Nervous System Cysts, Child, Genetics (clinical), Alleles, Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase/deficiency, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Oligosaccharides/metabolism, Congenital Disorders of Glycosylation/genetics, Hypothalamus/metabolism, alpha-Mannosidase/deficiency, Cerebellar Vermis/metabolism, Intellectual Disability/genetics, Mannose/metabolism, fetus, Polymicrogyria/genetics, Polymicrogyria, Leukocytes/metabolism, Female, Tongue/metabolism, Mannose, Brain Stem, Cerebellar Vermis

وصف الملف: application/pdf; application/octet-stream

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ade79422f56e0a567e70b2ea5e783406
https://biblio.vub.ac.be/vubir/impaired-catabolism-of-free-oligosaccharides-due-to-man2c1-variants-causes-a-neurodevelopmental-disorder(96caf5ec-f9c4-429e-bb48-d636ee0ac948).html