{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T04:57:37Z","timestamp":1694840257337},"reference-count":17,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[1993,4,13]],"date-time":"1993-04-13T00:00:00Z","timestamp":734659200000},"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":[[1993,11]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>GM2\u2010gangliosidosis B1 variant, considered a rare disorder with a wide geographical and ethnic distribution, appears to be exceptionally frequent in Portugal. In order to establish a carrier detection method for this disease we have determined the ratio of enzymatic activities against 4MUGS and 4MUG in urine from B1 variant obligate carriers and controls, using the total extract and the Hex A immunobound to a monoclonal antibody. The Hex A immunoassay was applied to the identification of carriers in B1 variant families and the results obtained were compared with those from DNA analysis. The reliability and feasibility of the Hex A immunoassay make it a suitable method for B1 variant carrier screening, which is particularly important for the prevention of this severe neurological disease in the population at risk.<\/jats:p>","DOI":"10.1007\/bf00711518","type":"journal-article","created":{"date-parts":[[2004,11,30]],"date-time":"2004-11-30T08:47:37Z","timestamp":1101804457000},"page":"1003-1011","source":"Crossref","is-referenced-by-count":2,"title":["Identification of GM2\u2010gangliosidosis B1 variant carriers"],"prefix":"10.1002","volume":"16","author":[{"given":"M. G.","family":"Ribeiro","sequence":"first","affiliation":[{"name":"Instituto de Gen\u00e9tica M\u00e9dica Jacinto de Magalhaes  P\u00e7. Pedro Nunes, 74 Porto 4000 Portugal"}]},{"given":"R.","family":"Pinto","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica M\u00e9dica Jacinto de Magalhaes  P\u00e7. Pedro Nunes, 74 Porto 4000 Portugal"}]},{"given":"P.","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Departamento de Produ\u00e7ao e Sistemas Universidade do Minho  Braga 4700 Portugal"}]},{"given":"M. C.","family":"S\u00e1 Miranda","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica M\u00e9dica Jacinto de Magalhaes  P\u00e7. Pedro Nunes, 74 Porto 4000 Portugal"}]}],"member":"311","published-online":{"date-parts":[[1993,4,13]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(91)90308-Y"},{"key":"e_1_2_1_3_1","first-page":"802","article-title":"A double mutation in exon 6 of the \u03b2\u2010hexosaminidase \u03b1\u2010subunit in a patient with the B1 variant of Tay\u2010Sachs disease","volume":"51","author":"Ainsworth PJ","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_4_1","volume-title":"Practical Nonparametric Statistics","author":"Conover WJ","year":"1980"},{"key":"e_1_2_1_5_1","first-page":"886","article-title":"GM2\u2010gangliosidosis B1 variant: analysis of \u03b2\u2010hexosaminidase \u03b1 gene mutations in 11 patients from a defined region in Portugal","volume":"49","author":"Dos Santos MR","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/1.9.759"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1159\/000469003"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb01066.x"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1983.tb01567.x"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(17)39645-X"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1071451"},{"key":"e_1_2_1_12_1","first-page":"658","article-title":"A method for routinely extracting DNA buccal cells for cystic fibrosis carrier screening","volume":"27","author":"Mayall E","year":"1990","journal-title":"J Med Genet"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.1988.tb13266.x"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799940"},{"key":"e_1_2_1_15_1","first-page":"1807","volume-title":"The Metabolic Basis of Inherited Disease","author":"Sandhoff K","year":"1989"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00284572"},{"key":"e_1_2_1_17_1","first-page":"269","volume-title":"Methods of Enzymatic Analysis, vol. 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