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Titolo:
Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis
Autore:
Grunewald, S; Imbach, T; Huijben, K; Rubio-Gozalbo, ME; Verrips, A; de Klerk, JBC; Stroink, H; Andel, JFD; Van Hove, JLK; Wendel, U; Matthijs, G; Hennet, T; Jaeken, J; Wevers, RA;
Indirizzi:
Univ Nijmegen Hosp, Inst Neurol, Lab Pediat & Neurol, NL-6500 HB Nijmegen,Netherlands Univ Nijmegen Hosp Nijmegen Netherlands NL-6500 HB Nijmegen,Netherlands Univ Dusseldorf, Dept Pediat, D-4000 Dusseldorf, Germany Univ Dusseldorf Dusseldorf Germany D-4000 at, D-4000 Dusseldorf, Germany Katholieke Univ Leuven, Ctr Human Genet, Louvain, Belgium Katholieke Univ Leuven Louvain Belgium tr Human Genet, Louvain, Belgium Univ Hosp Gasthuisberg, Dept Pediat, B-3000 Louvain, Belgium Univ Hosp Gasthuisberg Louvain Belgium B-3000 t, B-3000 Louvain, Belgium Univ Zurich, Inst Physiol, CH-8006 Zurich, Switzerland Univ Zurich Zurich Switzerland CH-8006 siol, CH-8006 Zurich, Switzerland Univ Nijmegen Hosp, Dept Metab Dis, NL-6500 HB Nijmegen, Netherlands Univ Nijmegen Hosp Nijmegen Netherlands NL-6500 HB Nijmegen, Netherlands Univ Nijmegen Hosp, Dept Pediat Neurol, NL-6500 HB Nijmegen, Netherlands Univ Nijmegen Hosp Nijmegen Netherlands NL-6500 HB Nijmegen, Netherlands Sophia Childrens Hosp, Rotterdam, Netherlands Sophia Childrens Hosp Rotterdam Netherlands osp, Rotterdam, Netherlands Ignanius Hosp, Dept Neurol, Breda, Netherlands Ignanius Hosp Breda Netherlands s Hosp, Dept Neurol, Breda, Netherlands
Titolo Testata:
ANNALS OF NEUROLOGY
fascicolo: 6, volume: 47, anno: 2000,
pagine: 776 - 781
SICI:
0364-5134(200006)47:6<776:CABCOC>2.0.ZU;2-3
Fonte:
ISI
Lingua:
ENG
Soggetto:
DEFICIENT GLYCOPROTEIN SYNDROME; PHOSPHOMANNOSE ISOMERASE DEFICIENCY; SACCHAROMYCES-CEREVISIAE; DISEASE; TRANSFERRIN; PROTEIN; GENE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
29
Recensione:
Indirizzi per estratti:
Indirizzo: Wevers, RA Univ Nijmegen Hosp, Inst Neurol, Lab Pediat & Neurol, POB 9101,NL-6500 HBNijmegen, Netherlands Univ Nijmegen Hosp POB 9101 Nijmegen Netherlands NL-6500 HB ds
Citazione:
S. Grunewald et al., "Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis", ANN NEUROL, 47(6), 2000, pp. 776-781

Abstract

We report on 8 patients with a recently described novel subtype of congenital disorder of glycosylation type Ic (CDG-Ic). Their clinical presentationwas mainly neurological with developmental retardation, muscular hypotonia, and epilepsy. Several symptoms commonly seen in CDG-Ia such as inverted nipples, abnormal fat distribution, and cerebellar hypoplasia were not observed. The clinical course is milder overall, with a better neurological outcome, than in CDG-Ia. The isoelectric focusing pattern of serum transferrin in CDG-Ia and CDG-Ic is indistinguishable. Interestingly, beta-trace protein in cerebrospinal fluid derived from immunoblot analysis of the brain showed a less pronounced hypoglycosylation pattern in CDG-Ic patients than in CDG-Ia patients. Analysis of lipid-linked oligosaccharides revealed an accumulation of Man(9)GlcNAc(2), intermediates due to dolichol pyrophosphate-Man(9)GlcNAc(2), alpha-1,3 glucosyltransferase deficiency. All patients were homozygous for an A333V mutation.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/12/20 alle ore 09:38:43