(Q35200501)

7 August 2017

title

Frequency of hexosaminidase A variant alleles among Ashkenazi Jews and prenatal diagnosis of GM2 gangliosidosis (English)

1 reference

7 August 2017

1 reference

Navon R

1

1 reference

7 August 2017

Adam A

series ordinal

2

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 September 1985

1 reference

American Journal of Human Genetics

7 August 2017

published in

1 reference

7 August 2017

volume

37

1 reference

7 August 2017

issue

5

1 reference

7 August 2017

page(s)

1031-1033

1 reference

Ganglioside GM2 N-acetyl-beta-D-galactosaminidase activity in cultured fibroblasts of late-infantile and adult GM2 gangliosidosis patients and of healthy probands with low hexosaminidase level.

7 August 2017

cites work

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684676

Estimation of the frequency of hexosaminidase a variant alleles in the American Jewish population

13 July 2018

1 reference

PubMed Central

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684676

Nonuniform deficiency of hexosaminidase A in tissues and fluids of two unrelated individuals

13 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2931975

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clinical and genetic variations in the syndrome of adult GM2 gangliodosis resulting from hexosaminidase a deficiency

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2931975

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Hexosaminidase A deficient adults: presence of alpha chain precursor in cultured skin fibroblasts

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2931975

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

PMC publication ID

1684676

1 reference

7 August 2017

1 reference