Literature DB >> 4986776

Tay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay.

J S O'Brien, S Okada, A Chen, D L Fillerup.   

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Year:  1970        PMID： 4986776     DOI： 10.1056/NEJM197007022830104

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  71 in total

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6.  Does serum hexosaminidase activity play a role in the diagnosis of strangulated bowel obstruction? An experimental study.

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7.  Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. I. Statistical methods.

Authors:  R M Cantor; J S Lim; C Roy; M M Kaback
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8.  Estimation of genotype distributions and posterior genotype probabilities for beta-mannosidosis in Salers cattle.

Authors:  J F Taylor; B Abbitt; J P Walter; S K Davis; J T Jaques; R F Ochoa
Journal:  Genetics       Date:  1993-11       Impact factor: 4.562

9.  Chromatographic components of beta-hexosaminidase in I-cell disease (mucolipidosis II).

Authors:  A F Van Elsen; J G Leroy
Journal:  Hum Genet       Date:  1979-04-05       Impact factor: 4.132

10.  Incidence and carrier frequency of Sandhoff disease in Saskatchewan determined using a novel substrate with detection by tandem mass spectrometry and molecular genetic analysis.

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Journal:  Mol Genet Metab       Date:  2014-01-13       Impact factor: 4.797
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