{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,10]],"date-time":"2025-09-10T21:52:50Z","timestamp":1757541170068},"reference-count":11,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,11,21]],"date-time":"2005-11-21T00:00:00Z","timestamp":1132531200000},"content-version":"vor","delay-in-days":7144,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[1986,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Amniocentesis and subsequent tests are reported on a fetus conceived of a rare mating type: its mother has an intermediate level of \u03b2 hexosaminidase A (HEX A), characteristic of carriers of Tay\u2010Sachs disease (TSD), while the father suffers from an adult\u2010onset GM<jats:sub>2<\/jats:sub> ganglio\u2010sidosis (AOG) with severe HEX A deficiency. Activity of HEX A in the cultured fetal cells was very low when measured by the heat\u2010inactivation method, thus showing the typical biochemical phenotype of TSD fetuses. However, upon separation of HEX isozymes by ion exchange chromatography, residual HEX A (17 per cent of total HEX) was demonstrated. Also in contrast to TSD fetuses, this fetus' fibroblasts were able to synthesize the precursor of a chains of HEX, and ultrastructural examination of its brain revealed few atypical lamellar bodies, unlike those found in TSD fetuses of the same gestational age. It is therefore concluded that the fetus was not affected with TSD, but rather with AOG.<\/jats:p>","DOI":"10.1002\/pd.1970060303","type":"journal-article","created":{"date-parts":[[2007,3,4]],"date-time":"2007-03-04T00:20:52Z","timestamp":1172967652000},"page":"169-176","source":"Crossref","is-referenced-by-count":7,"title":["Adult\u2010onset GM<sub>2<\/sub> gangliosidosis diagnosed in a fetus"],"prefix":"10.1002","volume":"6","author":[{"given":"R.","family":"Navon","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"U.","family":"Sandbank","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Frisch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Baram","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Adam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,11,21]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"102","article-title":"Ultrastructural studies of eight cases of fetal Tay\u2010Sachs disease","volume":"30","author":"Adachi M.","year":"1974","journal-title":"Lab. Invest."},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410160105"},{"key":"e_1_2_1_4_1","doi-asserted-by":"crossref","first-page":"11070","DOI":"10.1016\/S0021-9258(18)90623-X","article-title":"Faulty association of a and \u03b2 subunits in some forms of \u03b2\u2010hexosaminidase A deficiency","volume":"259","author":"d'Azzo A.","year":"1984","journal-title":"J. Biol. Chem."},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970040507"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(84)91624-3"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)85585-0"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(77)90189-9"},{"key":"e_1_2_1_9_1","first-page":"1031","article-title":"Frequency of hexosaminidase A variant alleles among Ashkenazi Jews and prenatal diagnosis of GM2 gangliosidoses","volume":"37","author":"Navon R.","year":"1986","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_1_10_1","doi-asserted-by":"crossref","unstructured":"NavonR. ArgovZ. FrischA. (1986).Hexosaminidase A deficiency in adults Am. J. Med. Genet. in press.","DOI":"10.1002\/ajmg.1320240123"},{"key":"e_1_2_1_11_1","first-page":"672","article-title":"Suggestions for a nomenclature for the GM2 gangliosidoses making certain (possibly unwarrantable) assumptions","volume":"30","author":"O'Brien J. S.","year":"1978","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_1_12_1","first-page":"259","article-title":"Diagnosis of Tay\u2010Sachs disease by hexosaminidase activity in leukocytes and amniotic fluid cells","volume":"7","author":"Padeh B.","year":"1971","journal-title":"Isr. J. Med. Sci."}],"container-title":["Prenatal Diagnosis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fpd.1970060303","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pd.1970060303","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,21]],"date-time":"2023-10-21T23:49:32Z","timestamp":1697932172000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/pd.1970060303"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1986,5]]},"references-count":11,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1986,5]]}},"alternative-id":["10.1002\/pd.1970060303"],"URL":"https:\/\/doi.org\/10.1002\/pd.1970060303","archive":["Portico"],"relation":{},"ISSN":["0197-3851","1097-0223"],"issn-type":[{"value":"0197-3851","type":"print"},{"value":"1097-0223","type":"electronic"}],"subject":[],"published":{"date-parts":[[1986,5]]}}}