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Titolo:
Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose
Autore:
Hendriksz, CJ; McClean, P; Henderson, MJ; Keir, DG; Worthington, VC; Imtiaz, F; Schollen, E; Matthijs, G; Winchester, BG;
Indirizzi:
St James Univ Hosp, Childrens Liver & GI Unit, Dept Paediat, Leeds LS9 7TF, W Yorkshire, England St James Univ Hosp Leeds W Yorkshire England LS9 7TF W Yorkshire, England Univ Coll London, Dept Neuroimmunol, Neurol Inst, London WC1N 3BG, EnglandUniv Coll London London England WC1N 3BG Inst, London WC1N 3BG, England Natl Hosp Neurol & Neurosurg, London WC1N 3BG, England Natl Hosp Neurol & Neurosurg London England WC1N 3BG n WC1N 3BG, England Great Ormond St Hosp Children, Enzyme Lab, London WC1N 3JH, England Great Ormond St Hosp Children London England WC1N 3JH WC1N 3JH, England Univ Coll London, London WC1N 1EH, England Univ Coll London London England WC1N 1EH ondon, London WC1N 1EH, England Catholic Univ Louvain, Ctr Human Genet, B-3000 Louvain, Belgium Catholic Univ Louvain Louvain Belgium B-3000 et, B-3000 Louvain, Belgium
Titolo Testata:
ARCHIVES OF DISEASE IN CHILDHOOD
fascicolo: 4, volume: 85, anno: 2001,
pagine: 339 - 340
SICI:
0003-9888(200110)85:4<339:STOCDG>2.0.ZU;2-Q
Fonte:
ISI
Lingua:
ENG
Soggetto:
POTENTIAL THERAPY; GLYCOSYLATION;
Keywords:
carbohydrate deficient glycoprotein syndrome; enteropathy; hepatic fibrosis; hyperinsulinism; hypoglycaemia; mannose;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
6
Recensione:
Indirizzi per estratti:
Indirizzo: McClean, P St James Univ Hosp, Childrens Liver & GI Unit, Dept Paediat, Leeds LS9 7TF, W Yorkshire, England St James Univ Hosp Leeds W Yorkshire England LS9 7TF , England
Citazione:
C.J. Hendriksz et al., "Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose", ARCH DIS CH, 85(4), 2001, pp. 339-340

Abstract

An Asian girl presented with failure to thrive, congenital hepatic fibrosis, protein losing enteropathy, and hypoglycaemia. Phosphomannose isomerase activity in skin fibroblasts was reduced. She is homozygous for a mutation,D131N, in the phosphomannose isomerase gene (PM1), consistent with the diagnosis of carbohydrate deficient glycoprotein syndrome type 1b. She responded to oral mannose treatment.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/12/20 alle ore 23:28:14