{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,21]],"date-time":"2025-12-21T12:02:32Z","timestamp":1766318552522},"reference-count":26,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[1991,3,19]],"date-time":"1991-03-19T00:00:00Z","timestamp":669340800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1991,11]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>A phenotypically normal mother of a mucopolysaccharidosis VII child, is reported with an unusually low<jats:italic>\u03b2<\/jats:italic>\u2010glucuronidase activity. Low enzyme activity was systemic (6\u201310% of controls) and residual<jats:italic>\u03b2<\/jats:italic>\u2010glucuronidase in leukocytes had an apparently normal<jats:italic>K<\/jats:italic><jats:sub>m<\/jats:sub> value. [<jats:sup>35<\/jats:sup>S]sulphate incorporation and chase assays in fibroblasts gave values similar to control cells. A normal excretion pattern of glycosaminoglycan was found in this woman's urine. Low enzymatic activity can be related to a non\u2010pathological \u2018pseudodeficiency\u2019 allele for<jats:italic>\u03b2<\/jats:italic>\u2010glucuronidase; this woman appears to be an apparent compound heterozygote for this allele and mucopolysaccharidosis VII. Her next pregnancy was monitored by chorionic villus sampling and a heterozygous fetus was suspected. These studies stress the need for complete enzyme investigations of obligate carriers for mucopolysaccharidoses in order to prevent difficulties at prenatal analysis.<\/jats:p>","DOI":"10.1007\/bf01800472","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T17:04:17Z","timestamp":1119373457000},"page":"908-914","source":"Crossref","is-referenced-by-count":14,"title":["Low<i>\u03b2<\/i>\u2010glucuronidase activity in a healthy member of a family with mucopolysaccharidosis VII"],"prefix":"10.1002","volume":"14","author":[{"given":"A.","family":"Chabas","sequence":"first","affiliation":[{"name":"Institut de Bioqu\u00edmica Cl\u00ednica Diputaci\u00f3 de Barcelona  Apartat de Correus 137 Cerdanyola, Barcelona 08290 Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. 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