Tay-sachs disease heterozygote selection
Autor(a) principal: | |
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Data de Publicação: | 1978 |
Outros Autores: | , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNIFESP |
Texto Completo: | http://repositorio.unifesp.br/handle/11600/24780 http://dx.doi.org/10.1203/00006450-197810000-00026 |
Resumo: | The authors determined the serum hexosaminidase A levels in 197 subjects (106 males and 91 females); 174 were adults and 23 were children aged from 20 days to 15 years; 13 of the children were of Jewish origin, the other 10 children were non-Jewish. Of the total 197 subjects, 94 (51 males and 43 females) were Jews whose ancestors lived in Western and Central Europe (Ashkenazi). The other 103 subjects (53 males and 50 females) had no Jewish ancestors. The serum hexosaminidase A levels were determined following the method of O'Brien et al. (1970) modified by Kaback (Methods Enzymol., 28: 862 (1973)). In those cases where the results were doubtful, especially in the pregnant women (6), the hexosaminidase A levels were also tested in the leukocyte, according to the method described by Kaback and Zeiger (Advan. Exp. Med. Biol., 19: 13 (1972)). The results are presented in Table 1. Comments: The high incidence of heterozygote carriers of Tay-Sachs disease in Ashkenazi Jews (1:30), emphasized once more by this investigation, justifies the population screening for these heterozygotes, particularly among Jews, in order to offer genetic counseling and try to prevent further cases of Tay-Sachs disease. |
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Schmidt, Benjamin José [UNIFESP]Diamet, A. J.Nishimura, R.Wakamoto, M.Universidade Federal de São Paulo (UNIFESP)Universidade de São Paulo (USP)2016-01-24T11:39:35Z2016-01-24T11:39:35Z1978-01-01Pediatric Research. Baltimore: Williams & Wilkins, v. 12, n. 10, p. 1029-1029, 1978.0031-3998http://repositorio.unifesp.br/handle/11600/24780http://dx.doi.org/10.1203/00006450-197810000-0002610.1203/00006450-197810000-00026WOS:A1978FQ75200026The authors determined the serum hexosaminidase A levels in 197 subjects (106 males and 91 females); 174 were adults and 23 were children aged from 20 days to 15 years; 13 of the children were of Jewish origin, the other 10 children were non-Jewish. Of the total 197 subjects, 94 (51 males and 43 females) were Jews whose ancestors lived in Western and Central Europe (Ashkenazi). The other 103 subjects (53 males and 50 females) had no Jewish ancestors. The serum hexosaminidase A levels were determined following the method of O'Brien et al. (1970) modified by Kaback (Methods Enzymol., 28: 862 (1973)). In those cases where the results were doubtful, especially in the pregnant women (6), the hexosaminidase A levels were also tested in the leukocyte, according to the method described by Kaback and Zeiger (Advan. Exp. Med. Biol., 19: 13 (1972)). The results are presented in Table 1. Comments: The high incidence of heterozygote carriers of Tay-Sachs disease in Ashkenazi Jews (1:30), emphasized once more by this investigation, justifies the population screening for these heterozygotes, particularly among Jews, in order to offer genetic counseling and try to prevent further cases of Tay-Sachs disease.PIRACICABA UNIV,FAC MED,DEPT PEDIAT,CAMPINAS,BRAZILUNIV São Paulo,FAC MED,DEPT NEUROL,São Paulo,BRAZILUniversidade Federal de São Paulo, EPM, São Paulo, BrazilWeb of Science1029-1029engWilliams & WilkinsPediatric ResearchTay-sachs disease heterozygote selectioninfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESP11600/247802023-03-24 14:39:28.596metadata only accessoai:repositorio.unifesp.br:11600/24780Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestopendoar:34652023-03-24T17:39:28Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false |
dc.title.en.fl_str_mv |
Tay-sachs disease heterozygote selection |
title |
Tay-sachs disease heterozygote selection |
spellingShingle |
Tay-sachs disease heterozygote selection Schmidt, Benjamin José [UNIFESP] |
title_short |
Tay-sachs disease heterozygote selection |
title_full |
Tay-sachs disease heterozygote selection |
title_fullStr |
Tay-sachs disease heterozygote selection |
title_full_unstemmed |
Tay-sachs disease heterozygote selection |
title_sort |
Tay-sachs disease heterozygote selection |
author |
Schmidt, Benjamin José [UNIFESP] |
author_facet |
Schmidt, Benjamin José [UNIFESP] Diamet, A. J. Nishimura, R. Wakamoto, M. |
author_role |
author |
author2 |
Diamet, A. J. Nishimura, R. Wakamoto, M. |
author2_role |
author author author |
dc.contributor.institution.none.fl_str_mv |
Universidade Federal de São Paulo (UNIFESP) Universidade de São Paulo (USP) |
dc.contributor.author.fl_str_mv |
Schmidt, Benjamin José [UNIFESP] Diamet, A. J. Nishimura, R. Wakamoto, M. |
description |
The authors determined the serum hexosaminidase A levels in 197 subjects (106 males and 91 females); 174 were adults and 23 were children aged from 20 days to 15 years; 13 of the children were of Jewish origin, the other 10 children were non-Jewish. Of the total 197 subjects, 94 (51 males and 43 females) were Jews whose ancestors lived in Western and Central Europe (Ashkenazi). The other 103 subjects (53 males and 50 females) had no Jewish ancestors. The serum hexosaminidase A levels were determined following the method of O'Brien et al. (1970) modified by Kaback (Methods Enzymol., 28: 862 (1973)). In those cases where the results were doubtful, especially in the pregnant women (6), the hexosaminidase A levels were also tested in the leukocyte, according to the method described by Kaback and Zeiger (Advan. Exp. Med. Biol., 19: 13 (1972)). The results are presented in Table 1. Comments: The high incidence of heterozygote carriers of Tay-Sachs disease in Ashkenazi Jews (1:30), emphasized once more by this investigation, justifies the population screening for these heterozygotes, particularly among Jews, in order to offer genetic counseling and try to prevent further cases of Tay-Sachs disease. |
publishDate |
1978 |
dc.date.issued.fl_str_mv |
1978-01-01 |
dc.date.accessioned.fl_str_mv |
2016-01-24T11:39:35Z |
dc.date.available.fl_str_mv |
2016-01-24T11:39:35Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.citation.fl_str_mv |
Pediatric Research. Baltimore: Williams & Wilkins, v. 12, n. 10, p. 1029-1029, 1978. |
dc.identifier.uri.fl_str_mv |
http://repositorio.unifesp.br/handle/11600/24780 http://dx.doi.org/10.1203/00006450-197810000-00026 |
dc.identifier.issn.none.fl_str_mv |
0031-3998 |
dc.identifier.doi.none.fl_str_mv |
10.1203/00006450-197810000-00026 |
dc.identifier.wos.none.fl_str_mv |
WOS:A1978FQ75200026 |
identifier_str_mv |
Pediatric Research. Baltimore: Williams & Wilkins, v. 12, n. 10, p. 1029-1029, 1978. 0031-3998 10.1203/00006450-197810000-00026 WOS:A1978FQ75200026 |
url |
http://repositorio.unifesp.br/handle/11600/24780 http://dx.doi.org/10.1203/00006450-197810000-00026 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.ispartof.none.fl_str_mv |
Pediatric Research |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
1029-1029 |
dc.publisher.none.fl_str_mv |
Williams & Wilkins |
publisher.none.fl_str_mv |
Williams & Wilkins |
dc.source.none.fl_str_mv |
reponame:Repositório Institucional da UNIFESP instname:Universidade Federal de São Paulo (UNIFESP) instacron:UNIFESP |
instname_str |
Universidade Federal de São Paulo (UNIFESP) |
instacron_str |
UNIFESP |
institution |
UNIFESP |
reponame_str |
Repositório Institucional da UNIFESP |
collection |
Repositório Institucional da UNIFESP |
repository.name.fl_str_mv |
Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP) |
repository.mail.fl_str_mv |
|
_version_ |
1802764120740593664 |