{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T16:18:45Z","timestamp":1698250725051},"reference-count":32,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[1978,7,17]],"date-time":"1978-07-17T00:00:00Z","timestamp":269481600000},"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":[[1979,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A<jats:italic>\u03b2<\/jats:italic>\u2010glucuronidase deficiency found in serum, leukocytes and fibroblasts and an increased [<jats:sup>35<\/jats:sup>S]sulphate incorporation in fibroblasts led us to diagnose two cases of type VII mucopolysaccharidosis in one family. In spite of the wide distribution of activities in serum from controls, decreased<jats:italic>\u03b2<\/jats:italic>\u2010glucuronidase activity allowed us to demonstrate the heterozygous status of the parents and two other children. Following these studies, an antenatal diagnosis was performed when the mother was pregnant again; amniotic fluid and cultured amniotic cells were used for enzyme activity determination. A heterozygous fetus was suspected and confirmed after birth. The reliability of various biological materials for enzymatic diagnosis and existence of genetic variants in the normal population are discussed.<\/jats:p>","DOI":"10.1007\/bf01799071","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T16:30:11Z","timestamp":1119371411000},"page":"29-34","source":"Crossref","is-referenced-by-count":5,"title":["<i>\u03b2<\/i>\u2010Glucuronidase deficiency: Enzyme studies in an affected family and prenatal diagnosis"],"prefix":"10.1002","volume":"2","author":[{"given":"I.","family":"Maire","sequence":"first","affiliation":[{"name":"Laboratorie d'Enzymologie et de Culture Cellulaire H\u00f4pital Debrousse  29 rue Soeur Bouvier Lyon 69322 France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Mandon","sequence":"additional","affiliation":[{"name":"Laboratorie d'Enzymologie et de Culture Cellulaire H\u00f4pital Debrousse  29 rue Soeur Bouvier Lyon 69322 France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. T.","family":"Zabot","sequence":"additional","affiliation":[{"name":"Laboratorie d'Enzymologie et de Culture Cellulaire H\u00f4pital Debrousse  29 rue Soeur Bouvier Lyon 69322 France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Mathieu","sequence":"additional","affiliation":[{"name":"Laboratorie d'Enzymologie et de Culture Cellulaire H\u00f4pital Debrousse  29 rue Soeur Bouvier Lyon 69322 France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Guibaud","sequence":"additional","affiliation":[{"name":"Service de P\u00e9diatrie H\u00f4pital Debrousse  29 rue Soeur Bouvier Lyon 69322 France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1978,7,17]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-197707000-00008"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(75)80968-1"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI108627"},{"key":"e_1_2_1_5_1","first-page":"747","article-title":"The diagnosis of the adult type of Gaucher's disease and its carrier state by demonstration of deficiency of\u03b2\u2010glucosidase activity in peripheral blood leukocytes","volume":"76","author":"Beutler E.","year":"1970","journal-title":"J. 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