(Q73405257)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12752571%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

title

Evaluation of a Tay-Sachs disease screening program (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12752571%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

A A Gason

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12752571%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

E Sheffield

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12752571%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

A Bankier

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12752571%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

M A Aitken

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12752571%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

S Metcalfe

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12752571%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

K Barlow Stewart

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12752571%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

M B Delatycki

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12752571%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

publication date

1 May 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12752571%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12752571%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

volume

63

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12752571%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12752571%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

page(s)

386-392

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12752571%20AND%20SRC:MED&resulttype=core&format=json

Tay-Sachs Disease: Generalized Absence of a Beta-D- N -Acetylhexosaminidase Component

3 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00074.X

7 January 2021

Variation of beta-N-acetylhexosaminidase-pattern in Tay-Sachs disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00074.X

7 January 2021

Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00074.X

7 January 2021

Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00074.X

7 January 2021

The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00074.X

7 January 2021

Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00074.X

7 January 2021

Screening for carriers of Tay-Sachs disease in the ultraorthodox Ashkenazi Jewish community in Israel.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00074.X

7 January 2021

Heterozygote screening for Tay-Sachs disease: past successes and future challenges.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00074.X

7 January 2021

Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00074.X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00074.X

7 January 2021

Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of Tay-Sachs disease gene carriers among Ashkenazic Jews

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00074.X

7 January 2021

To test or not to test?

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00074.X

7 January 2021

The Tay-Sachs disease prevention program in Australia: Sydney pilot study

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00074.X

7 January 2021

Tay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00074.X

7 January 2021

Uptake of cystic fibrosis testing in primary care: supply push or demand pull?

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00074.X

7 January 2021

Attitudes of deaf adults toward genetic testing for hereditary deafness

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00074.X

7 January 2021

For whose benefit? Politics and sickle cell

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00074.X

7 January 2021

A measure of informed choice.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00074.X

7 January 2021

10.1034/J.1399-0004.2003.00074.X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12752571%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference