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Impaired catabolism of free oligosaccharides due to MAN2C1 ..:
Maia, Nuno
;
Potelle, Sven
;
Yildirim, Hamide
...
boreal:263634. , 2022
Link:
http://hdl.handle.net/2078.1/263634
RT Journal T1
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder
UL https://suche.suub.uni-bremen.de/peid=base-ftunistlouisbrus:oai:dial.uclouvain.be:boreal:263634&Exemplar=1&LAN=DE A1 Maia, Nuno A1 Potelle, Sven A1 Yildirim, Hamide A1 Duvet, Sandrine A1 Akula, Shyam K A1 Schulz, Celine A1 Wiame, Elsa A1 Gheldof, Alexander A1 O'Kane, Katherine A1 Lai, Abbe A1 Sermon, Karen A1 Proisy, Maïa A1 Loget, Philippe A1 Attié-Bitach, Tania A1 Quelin, Chloé A1 Fortuna, Ana Maria A1 Soares, Ana Rita A1 de Brouwer, Arjan P M A1 Van Schaftingen, Emile A1 Nassogne, Marie-Cécile A1 Walsh, Christopher A A1 Stouffs, Katrien A1 Jorge, Paula A1 Jansen, Anna C A1 Foulquier, François PB Cell Press YR 2022 K1 Adolescent K1 Alleles K1 Brain Stem K1 Cell Line K1 Tumor K1 Central Nervous System Cysts K1 Cerebellar Vermis K1 Child K1 Preschool K1 Congenital Disorders of Glycosylation K1 Female K1 Fetus K1 Glycosylation K1 Hamartoma K1 Humans K1 Hypothalamus K1 Intellectual Disability K1 Leukocytes K1 Male K1 Mannose K1 Oligosaccharides K1 Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase K1 Polymicrogyria K1 Tongue K1 alpha-Mannosidase K1 MAN2C1 K1 congenital disorder of deglycosylation K1 free oligosaccharides K1 neurodevelopmental disorder JF boreal:263634 LK http://hdl.handle.net/2078.1/263634 DO http://hdl.handle.net/2078.1/263634 SF ELIB - SuUB Bremen
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