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Titolo:
Neonatal severe intractable diarrhoea as the presenting manifestation of an unclassified congenital disorder of glycosylation (CDG-x)
Autore:
Mention, K; Michaud, L; Dobbelaere, D; Guimber, D; Gottrand, F; Turck, D;
Indirizzi:
Univ Lille, Fac Med, Div Gastroenterol Hepatol & Nutr, Lille, France Univ Lille Lille France Div Gastroenterol Hepatol & Nutr, Lille, France Univ Lille, Fac Med, Div Metab Dis, Dept Paediat, Lille, France Univ Lille Lille France Med, Div Metab Dis, Dept Paediat, Lille, France Childrens Hosp, Lille, France Childrens Hosp Lille FranceChildrens Hosp, Lille, France
Titolo Testata:
ARCHIVES OF DISEASE IN CHILDHOOD
fascicolo: 3, volume: 85, anno: 2001,
pagine: F217 - F219
SICI:
0003-9888(200111)85:3<F217:NSIDAT>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
DEFICIENT GLYCOPROTEIN SYNDROME; PHOSPHOMANNOSE ISOMERASE DEFICIENCY; PROTRACTED DIARRHEA; MANNOSE THERAPY;
Keywords:
diarrhoea; protein losing enteropathy; hepatic insufficiency; neurological impairment;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
12
Recensione:
Indirizzi per estratti:
Indirizzo: Turck, D Hop Jaenne Flandre, Unit Gastroenterol Hepatol & Nutr Clin Pediat, 2 Ave Oscar Lambret, F-59037 Lille, France Hop Jaenne Flandre 2 Ave OscarLambret Lille France F-59037 ance
Citazione:
K. Mention et al., "Neonatal severe intractable diarrhoea as the presenting manifestation of an unclassified congenital disorder of glycosylation (CDG-x)", ARCH DIS CH, 85(3), 2001, pp. F217-F219

Abstract

A case of severe and protracted diarrhoea is reported, which started in the neonatal period and progressively associated with neurological impairment, dysmorphy, hepatosplenomegaly, and hepatic insufficiency, from which the patient died at 2 years of age. Isoelectric focusing of serum transferrin showed a congenital disorder of glycosylation type I pattern but the basic defect could not be identified. This observation shows that congenital disorder of glycosylation is a cause of intractable diarrhoea in neonates.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/12/20 alle ore 10:35:37