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Titolo:
A NOVEL DISORDER OF N-GLYCOSYLATION DUE TO PHOSPHOMANNOSE ISOMERASE DEFICIENCY
Autore:
DEKONING TJ; DORLAND L; VANDIGGELEN OP; BOONMAN AMC; DEJONG GJ; VANNOORT WL; DESCHRYVER J; DURAN M; VANDENBERG IET; GERWIG GJ; BERGER R; POLLTHE BT;
Indirizzi:
UNIV CHILDRENS HOSP HET WILHELMINA KINDERZIEKEN H,DEPT METAB DIS UTRECHT NETHERLANDS ERASMUS UNIV,DEPT CLIN GENET NL-3000 DR ROTTERDAM NETHERLANDS UNIV ROTTERDAM HOSP,DEPT INTERNAL MED 2 ROTTERDAM NETHERLANDS ERASMUS UNIV,DEPT CHEM PATHOL ROTTERDAM NETHERLANDS UNIV CHILDRENS HOSP HET WILHELMINA KINDERZIEKEN H,DEPT GASTROENTEROL UTRECHT NETHERLANDS UNIV UTRECHT,BIJVOET CTR BIOMOL RES NL-3508 TC UTRECHT NETHERLANDS
Titolo Testata:
Biochemical and biophysical research communications
fascicolo: 1, volume: 245, anno: 1998,
pagine: 38 - 42
SICI:
0006-291X(1998)245:1<38:ANDOND>2.0.ZU;2-U
Fonte:
ISI
Lingua:
ENG
Soggetto:
GLYCOPROTEIN SYNDROME;
Keywords:
CYCLIC VOMITING; CONGENITAL HEPATIC FIBROSIS; CARBOHYDRATE DEFICIENT GLYCOPROTEINS; CDG SYNDROME; PHOSPHOMANNOSE ISOMERASE DEFICIENCY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
18
Recensione:
Indirizzi per estratti:
Citazione:
T.J. Dekoning et al., "A NOVEL DISORDER OF N-GLYCOSYLATION DUE TO PHOSPHOMANNOSE ISOMERASE DEFICIENCY", Biochemical and biophysical research communications, 245(1), 1998, pp. 38-42

Abstract

Three siblings suffered from an unusual disorder of cyclic vomiting and congenital hepatic fibrosis, Serum transferrin isoelectric focusingshowed increased asialo-and disialotransferrin isoforms as seen in the carbohydrate-deficient glycoprotein (CDG) syndrome type I. Phosphomannomutase, which is deficient in most patients with type I CDG syndrome, was found to be normal in all three patients. Structural analysis of serum transferrin revealed nonglycosylated, hypoglycosylated, and normoglycosylated transferrin molecules. These findings suggested a defect in the early glycosylation pathway. Phosphomannose isomerase was found to be deficient and the defect was present in leucocytes, fibroblasts, and liver tissue. Phosphomannose isomerase deficiency appears to be a novel glycosylation disorder, which is biochemically indistinguishable from CDG syndrome type I. However, the clinical presentation is entirely different. (C) 1998 Academic Press.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 19/09/20 alle ore 12:53:51