(Q35201540)

7 August 2017

title

Low levels of beta hexosaminidase A in healthy individuals with apparent deficiency of this enzyme (English)

1 reference

7 August 2017

3

Yoseph YB

1 reference

7 August 2017

R. Navon

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A941901

8 August 2022

B. Geiger

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A941901

8 August 2022

Y. B. Yoseph

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A941901

8 August 2022

M. C. Rattazzi

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A941901

8 August 2022

language of work or name

English

0 references

publication date

1 July 1976

1 reference

full work available at URL

7 August 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/941901/pdf/?tool=EBI

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A941901

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/941901/?tool=EBI

8 August 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A941901

https://europepmc.org/articles/PMC1685065

8 August 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A941901

https://europepmc.org/articles/PMC1685065?pdf=render

8 August 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A941901

American Journal of Human Genetics

8 August 2022

published in

1 reference

7 August 2017

volume

28

1 reference

7 August 2017

issue

4

1 reference

7 August 2017

page(s)

339-349

1 reference

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

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685065

N-Acetyl-β-glucosaminidases in human spleen

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685065

Demonstration of an alteration of ganglioside metabolism in Tay-Sachs disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685065

Enzyme alterations and lipid storage in three variants of Tay-Sachs disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685065

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685065

Hydrolysis of Tay-Sachs Ganglioside by β-Hexosaminidase A of Human Liver and Urine

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685065

Absence of -N-acetyl-D-hexosaminidase A activity in a healthy woman

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685065

Apparent deficiency of hexosaminidase A in healthy members of a family with Tay-Sachs disease.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685065

Studies on human beta-D-N-acetylhexosaminidases. 3. Biochemical genetics of Tay-Sachs and Sandhoff's diseases.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685065

An enzymic method for the trace iodination of immunoglobulins and other proteins

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685065

Heterogeneity of human hepatic H-acetyl-beta-D-hexosaminidose. A activity toward natural glycosphingolipid substrates

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685065

Absence of Hexosaminidase a and B in a Normal Adult

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685065

Studies on complementation of beta hexosaminidase deficiency in human GM2 gangliosidosis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685065

Antibody-mediated thermal stabilization of human hexosaminidases

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685065

Ganglioside catabolism in hexosaminidase A-deficient adults.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685065

Sandhoff disease: defective glycosaminoglycan catabolism in cultured fibroblasts and its correction by beta-N-acetylhexosaminidase

26 September 2018

1 reference

12 December 2020

Immunochemical characterization of human beta-D-N-acetyl hexosaminidase from normal individuals and patients with Tay-Sachs disease. I. Antigenic differences between hexosaminidase A and hexosaminidase B

1 reference

12 December 2020

Isolation and relationship of human hexosaminidases

1 reference

12 December 2020

Studies on the substrate specificity of hexosaminidase A and B from liver

1 reference

12 December 2020

Purification of human hexosaminidases A and B by affinity chromatography

1 reference

12 December 2020

Enrichment and characterization of 2 forms of human N-acetyl-beta-D-hexosaminidase

1 reference

12 December 2020

Diagnosis of Tay-Sachs disease by hexosaminidase activity in leukocytes and amniotic fluid cells

1 reference

12 December 2020

Patterns of enzyme development utilizing cultivated human fetal cells derived from amniotic fluid

1 reference

12 December 2020

Identifiers

PMC publication ID

1685065

1 reference

7 August 2017

1 reference