↓ Skip to main content

The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program

Overview of attention for article published in Sao Paulo Medical Journal, July 2001
Altmetric Badge

Mentioned by

wikipedia
3 Wikipedia pages

Citations

dimensions_citation
19 Dimensions

Readers on

mendeley
42 Mendeley
You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output. Click here to find out more.
Title
The frequency of Tay-Sachs disease causing mutations in the Brazilian Jewish population justifies a carrier screening program
Published in
Sao Paulo Medical Journal, July 2001
DOI 10.1590/s1516-31802001000400007
Pubmed ID
Authors

Roberto Rozenberg, Lygia da Veiga Pereira

Abstract

Tay-Sachs disease is an autosomal recessive disease characterized by progressive neurologic degeneration, fatal in early childhood. In the Ashkenazi Jewish population the disease incidence is about 1 in every 3,500 newborns and the carrier frequency is 1 in every 29 individuals. Carrier screening programs for Tay-Sachs disease have reduced disease incidence by 90% in high-risk populations in several countries. The Brazilian Jewish population is estimated at 90,000 individuals. Currently, there is no screening program for Tay-Sachs disease in this population.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 42 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 42 100%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 15 36%
Student > Master 6 14%
Student > Doctoral Student 3 7%
Researcher 3 7%
Student > Ph. D. Student 3 7%
Other 3 7%
Unknown 9 21%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 12 29%
Medicine and Dentistry 10 24%
Agricultural and Biological Sciences 4 10%
Neuroscience 2 5%
Unspecified 1 2%
Other 3 7%
Unknown 10 24%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 11 November 2022.
All research outputs
#8,783,469
of 25,986,827 outputs
Outputs from Sao Paulo Medical Journal
#4
of 13 outputs
Outputs of similar age
#14,251
of 41,329 outputs
Outputs of similar age from Sao Paulo Medical Journal
#1
of 1 outputs
Altmetric has tracked 25,986,827 research outputs across all sources so far. This one is in the 43rd percentile – i.e., 43% of other outputs scored the same or lower than it.
So far Altmetric has tracked 13 research outputs from this source. They receive a mean Attention Score of 3.5. This one scored the same or higher as 9 of them.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 41,329 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 10th percentile – i.e., 10% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 1 others from the same source and published within six weeks on either side of this one. This one has scored higher than all of them