| http://purl.uniprot.org/citations/22213132 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22213132 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22213132 | http://www.w3.org/2000/01/rdf-schema#comment | "Congenital disorders of glycosylation (CDG) comprise a clinically and biochemically heterogeneous group of monogenetic-inherited, multisystemic diseases that affect the biosynthesis of N-and/or O-glycans linked to glycoconjugates. Recently, we identified the first patient with a defect in the cytosolic-orientated GDP-mannose:Man(3-4) GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase (ALG11), who presented an accumulation of shortened dolichol-linked oligosaccharides leading to CDG-Ip (ALG11-CDG). Here we describe an improved metabolic labeling method that allowed the identification of three new CDG-Ip cases that were missed so far in routine diagnostics. Although all CDG-Ip patients carry different mutations in the ALG11 gene, they share a variety of clinical syndromes like an unremarkable prenatal period followed by developmental delay, psychomotor, and mental retardation, strabismus convergens and seizures occurring in the first year of life."xsd:string |
| http://purl.uniprot.org/citations/22213132 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.22019"xsd:string |
| http://purl.uniprot.org/citations/22213132 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.22019"xsd:string |
| http://purl.uniprot.org/citations/22213132 | http://purl.uniprot.org/core/author | "Matthijs G."xsd:string |
| http://purl.uniprot.org/citations/22213132 | http://purl.uniprot.org/core/author | "Matthijs G."xsd:string |
| http://purl.uniprot.org/citations/22213132 | http://purl.uniprot.org/core/author | "Hoffmann G.F."xsd:string |
| http://purl.uniprot.org/citations/22213132 | http://purl.uniprot.org/core/author | "Hoffmann G.F."xsd:string |
| http://purl.uniprot.org/citations/22213132 | http://purl.uniprot.org/core/author | "Lambert M."xsd:string |
| http://purl.uniprot.org/citations/22213132 | http://purl.uniprot.org/core/author | "Lambert M."xsd:string |
| http://purl.uniprot.org/citations/22213132 | http://purl.uniprot.org/core/author | "Thiel C."xsd:string |
| http://purl.uniprot.org/citations/22213132 | http://purl.uniprot.org/core/author | "Thiel C."xsd:string |
| http://purl.uniprot.org/citations/22213132 | http://purl.uniprot.org/core/author | "Conway R.L."xsd:string |
| http://purl.uniprot.org/citations/22213132 | http://purl.uniprot.org/core/author | "Conway R.L."xsd:string |
| http://purl.uniprot.org/citations/22213132 | http://purl.uniprot.org/core/author | "Adamski C.R."xsd:string |
| http://purl.uniprot.org/citations/22213132 | http://purl.uniprot.org/core/author | "Adamski C.R."xsd:string |
| http://purl.uniprot.org/citations/22213132 | http://purl.uniprot.org/core/author | "Apeshiotis N."xsd:string |
| http://purl.uniprot.org/citations/22213132 | http://purl.uniprot.org/core/author | "Apeshiotis N."xsd:string |
| http://purl.uniprot.org/citations/22213132 | http://purl.uniprot.org/core/author | "Butler E."xsd:string |
| http://purl.uniprot.org/citations/22213132 | http://purl.uniprot.org/core/author | "Butler E."xsd:string |
| http://purl.uniprot.org/citations/22213132 | http://purl.uniprot.org/core/author | "Hanson K."xsd:string |
| http://purl.uniprot.org/citations/22213132 | http://purl.uniprot.org/core/author | "Hanson K."xsd:string |
| http://purl.uniprot.org/citations/22213132 | http://purl.uniprot.org/core/author | "Korner C."xsd:string |
| http://purl.uniprot.org/citations/22213132 | http://purl.uniprot.org/core/author | "Korner C."xsd:string |