{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,22]],"date-time":"2025-04-22T05:02:53Z","timestamp":1745298173256},"reference-count":13,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[1990,10,23]],"date-time":"1990-10-23T00:00:00Z","timestamp":656640000000},"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":[[1991,9]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>GM2\u2010gangliosidosis B1 variant is thought to be a rare disorder with a wide geographical and ethnic distribution. We report the biochemical findings obtained in different specimens from a group of 11 B1 variant patients originating from the north of Portugal. The biochemical data obtained seem to indicate that only one of these patients is a genetic compound presenting a clinical and biochemical pattern similar to the majority of B1 variant patients described in the literature, but somewhat different from the profile presented by the other patients reported here, who are homozygous for the \u2018DN\u2010allele\u2019.<\/jats:p>","DOI":"10.1007\/bf01799940","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T17:16:34Z","timestamp":1119374194000},"page":"715-720","source":"Crossref","is-referenced-by-count":7,"title":["Biochemical characterization of \u03b2\u2010hexosaminidase in different biological specimens from eleven patients with GM2\u2010gangliosidosis B1 variant"],"prefix":"10.1002","volume":"14","author":[{"given":"M. G.","family":"Ribeiro","sequence":"first","affiliation":[{"name":"Instituto de Gen\u00e9tica M\u00e9dica Jacinto de Magalh\u00e3es  Porto Portugal"}]},{"given":"R. A.","family":"Pinto","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica M\u00e9dica Jacinto de Magalh\u00e3es  Porto Portugal"}]},{"given":"M. R.","family":"Dos Santos","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica M\u00e9dica Jacinto de Magalh\u00e3es  Porto Portugal"}]},{"given":"M.","family":"Maia","sequence":"additional","affiliation":[{"name":"Hospital Maria Pia  Porto Portugal"}]},{"given":"M. C.","family":"S\u00e1 Miranda","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica M\u00e9dica Jacinto de Magalh\u00e3es  Porto Portugal"}]}],"member":"311","published-online":{"date-parts":[[1990,10,23]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj2440801"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198901000-00019"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1987.tb11008.x"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(17)39645-X"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1983.tb01567.x"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)52451-6"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(84)90003-2"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1071451"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00279094"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.1988.tb13266.x"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(73)90486-5"},{"key":"e_1_2_1_13_1","first-page":"1807","volume-title":"The Metabolic Basis of Inherited Disease","author":"Sandhoff K.","year":"1989"},{"key":"e_1_2_1_14_1","first-page":"329","article-title":"GM2\u2010gangliosidosis B1 variant: analysis of\u03b2\u2010hexosaminidase\u03b1 gene abnormalities in seven patients","volume":"46","author":"Tanaka A.","year":"1990","journal-title":"Am. J. Hum. Genet."}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01799940","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,17]],"date-time":"2023-09-17T04:24:28Z","timestamp":1694924668000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF01799940"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,10,23]]},"references-count":13,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1991,9]]}},"alternative-id":["10.1007\/BF01799940"],"URL":"https:\/\/doi.org\/10.1007\/bf01799940","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,10,23]]}}}