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Titolo:
LYSOSOMAL-ENZYME ACTIVITIES IN SERUM AND LEUKOCYTES FROM PATIENTS WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE IA (PHOSPHOMANNOMUTASE DEFICIENCY)
Autore:
BARONE R; CARCHON H; JANSEN E; PAVONE L; FIUMARA A; BOSSHARD NU; GITZELMANN R; JAEKEN J;
Indirizzi:
KATHOLIEKE UNIV LEUVEN HOSP,DEPT PEDIAT,CTR METAB DIS,HERESTR 49 B-3000 LOUVAIN BELGIUM CATANIA UNIV,INST PEDIAT,DIV PEDIAT NEUROL CATANIA ITALY KATHOLIEKE UNIV LEUVEN,DEPT PEDIAT B-3001 LOUVAIN BELGIUM UNIV ZURICH,DEPT PEDIAT,DIV METAB & MOL DIS ZURICH SWITZERLAND
Titolo Testata:
Journal of inherited metabolic disease
fascicolo: 2, volume: 21, anno: 1998,
pagine: 167 - 172
SICI:
0141-8955(1998)21:2<167:LAISAL>2.0.ZU;2-D
Fonte:
ISI
Lingua:
ENG
Soggetto:
GLYCOSYLATION; EXPRESSION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
19
Recensione:
Indirizzi per estratti:
Citazione:
R. Barone et al., "LYSOSOMAL-ENZYME ACTIVITIES IN SERUM AND LEUKOCYTES FROM PATIENTS WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE IA (PHOSPHOMANNOMUTASE DEFICIENCY)", Journal of inherited metabolic disease, 21(2), 1998, pp. 167-172

Abstract

From 10 patients with carbohydrate-deficient glycoprotein (CDG) syndrome due to phosphomannomutase (PMM) deficiency, out of 10 lysosomal enzymes, 7 enzyme activities were measured in serum and 9 in leukocytes. In serum there was a 2-fold to 4-fold increase in activity of beta-glucuronidase, beta-hexosaminidase, beta-galactosidase, and arylsulphatase A. In leukocytes, however, several enzymes had reduced activity, particularly alpha-fucosidase, beta-glucuronidase and alpha-mannosidase. These abnormalities could result from missorting, defective reuptake and/or reduced stability of the enzymes due to the defective glycosylation.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/11/20 alle ore 09:04:25