{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,13]],"date-time":"2023-11-13T00:07:16Z","timestamp":1699834036126},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,11,17]],"date-time":"2005-11-17T00:00:00Z","timestamp":1132185600000},"content-version":"vor","delay-in-days":8448,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[1982,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We had the opportunity of investigating a case (BK) of a severe form of mucopolysacchari\u2010 dosis with nearly total deficiency of \u03b2\u2010glucuronidase in serum, leucocytes and fibroblasts.<\/jats:p><jats:p>We here report results obtained by prenatal diagnosis of a clinically normal child (BK's sister), and point out the difficulty in interpreting a heterozygous level of \u03b2\u2010glucuronidase activity in cultured amniotic cells.<\/jats:p><jats:p>Four successive passages of amniotic cells were tested for \u03b2\u2010glucuronidase and \u03b1\u2010mannosidase activity in at\u2010risk and control cells. In different passages, enzyme activity was between 8 and 49 per cent of controls but 2 to 18 times higher than fibroblasts from the affected brother (BK).<\/jats:p><jats:p>The highest activity was observed in the first passage and the lowest in the third.<\/jats:p><jats:p>The electrophoretic separation of GAGS from at\u2010risk amniotic fluid showed a normal pattern. We discuss the correlation between enzyme levels in different passages of cultured cells and that found in leucocytes and fibroblasts from the propositus and parents.<\/jats:p><jats:p>From a practical point of view, we conclude that the first passage gives the most reliable results for prenatal diagnosis.<\/jats:p>","DOI":"10.1002\/pd.1970020403","type":"journal-article","created":{"date-parts":[[2007,3,3]],"date-time":"2007-03-03T23:25:57Z","timestamp":1172964357000},"page":"251-256","source":"Crossref","is-referenced-by-count":5,"title":["Prenatal diagnosis of a heterozygote for mucopolysaccharidosis type VII (\u03b2\u2010glucuronidase deficiency)"],"prefix":"10.1002","volume":"2","author":[{"given":"L.","family":"Poenaru","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Castelnau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Mossman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Bou\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. C.","family":"Dreyfus","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,11,17]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(75)80968-1"},{"key":"e_1_2_1_3_1","first-page":"69","volume-title":"Prenatal Diagnosis","author":"Bou\u00e9 A.","year":"1976"},{"key":"e_1_2_1_4_1","first-page":"251","article-title":"Different clinical and biochemical phenotypes associated with \u03b2\u2010glucuronidase deficiency","volume":"12","author":"Danes S. B.","year":"1974","journal-title":"Birth Defects: Orig. Avil. Ser. X"},{"key":"e_1_2_1_5_1","first-page":"503","article-title":"Le diagnostic enzymatique dans les maladies lysosorniales","volume":"32","author":"Dreyfus J. C.","year":"1975","journal-title":"Arch. Frac. P\u00e9diat."},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(72)90608-4"},{"key":"e_1_2_1_7_1","first-page":"149","article-title":"Mucopolysaccharidosis VII, \u03b2\u2010glucuronidase deficiency","volume":"23","author":"Gehler J.","year":"1974","journal-title":"Humangenetik"},{"key":"e_1_2_1_8_1","first-page":"969","article-title":"\u03b2\u2010glucuronidase deficiency rnucopolysaccharidosis methods for enzymatic diagnosis","volume":"82","author":"Glaser J. H.","year":"1973","journal-title":"J. Lab. Clin. Med."},{"key":"e_1_2_1_9_1","first-page":"29","article-title":"Mucopolysaccharidosis type VII par deficit en \u03b2\u2010glucuronidase. Etude d'une famille","volume":"27","author":"Guibaud P.","year":"1979","journal-title":"J. Genet. Hum."},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0003-9861(73)80006-2"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442197"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1976.tb00046.x"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb01351.x"},{"key":"e_1_2_1_14_1","unstructured":"Quinton B. A. Sly W. S. McAlister W. H. Rimoin D. L. Hall C. W. Neufeld E. F.(1971).\u03b2\u2010glucuronidase deficiency: a new mucopolysaccharide storage disease Sc. Pediat. Res. Atlantic City p.198."},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(73)80162-3"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(77)90466-1"}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.1970020403","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.1970020403","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,12]],"date-time":"2023-11-12T05:58:52Z","timestamp":1699768732000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.1970020403"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1982,10]]},"references-count":15,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1982,10]]}},"alternative-id":["10.1002\/pd.1970020403"],"URL":"https:\/\/doi.org\/10.1002\/pd.1970020403","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[1982,10]]}}}