(Q35203131)

7 August 2017

1 reference

title

The biochemical genetics of the hexosaminidase system in man (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A377957

12 April 2023

author name string

E. Beutler

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A377957

12 April 2023

language of work or name

English

0 references

publication date

1 March 1979

1 reference

full work available at URL

7 August 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/377957/?tool=EBI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A377957

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/377957/pdf/?tool=EBI

12 April 2023

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%3A377957

https://europepmc.org/articles/PMC1685763

12 April 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A377957

https://europepmc.org/articles/PMC1685763?pdf=render

12 April 2023

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%3A377957

American Journal of Human Genetics

12 April 2023

published in

1 reference

7 August 2017

volume

31

1 reference

7 August 2017

issue

2

1 reference

7 August 2017

page(s)

95-105

1 reference

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

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=1685763

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685763

Deficient hexosaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685763

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=1685763

Juvenile GM2 gangliosidosis: Partial deficiency of bexosaminidase A

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685763

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685763

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=1685763

Electrophoretic separation of -N-acetylhexosaminidases of human and bovine brain and liver and of Tay-Sachs brain tissue

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685763

Sandhoff's disease (GM 2 gangliosidosis type 2): clinical, chemical, and enzyme studies in five patients

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685763

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=1685763

Differences between the N-acetyl hexosaminidase isozymes in serum and tissues

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685763

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=1685763

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=1685763

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=1685763

Antibody against purified human hexosaminidase B cross-reacting with human hexosaminidase A

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685763

Approaches to the control and prevention 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=1685763

Malformations of kidney and urinary tract in common chromosomal aberrations. I. Clinical studies.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685763

Human beta-D-N-acetylhexosaminidases A and B: expression and linkage relationships in somatic cell hybrids

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685763

Tay-Sachs and Sandhoff's disease: intergenic complementation after somatic cell hybridization.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685763

Genetic complementation after fusion of Tay-Sachs and Sandhoff cells.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685763

N-acetyl-beta-D-hexosaminidase component A. Different forms in human tissues and fluids

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685763

Variability of -galactosidase A and B in different tissues of man

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685763

A low-molecular-weight protein cross-reacting with human liver N-acetyl-beta-D-glucosaminidase

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685763

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=1685763

N-acetylhexosaminidase activities 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=1685763

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=1685763

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=1685763

Tay-Sachs' and Sandhoff's diseases: the assignment of genes for hexosaminidase A and B to individual human chromosomes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685763

The subunits of human hexosaminidase A.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685763

Purification and chemical characterization of human hexosaminidases A and B.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685763

Chemical characterization and subunit structure of human N-acetylhexosaminidases A and B

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685763

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685763

Purification and properties of human kidney-cortex hexosaminidases A and B.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685763

Characterization of beta-D-N-acetylhexosaminidase isoenzymes in man-Chinese hamster somatic cell hybrids

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685763

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=1685763

Hexosaminidase isozyme in type O Gm2 gangliosidosis (Sandhoff-Jatzkewitz 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=1685763

Suggestions for a nomenclature for the GM2 gangliosidoses making certain (possibly unwarrantable) assumptions

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685763

Altered α subunits 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=1685763

Purification and properties of the hexosaminidase A-activating protein from human liver

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685763

The tissue distribution of hexosaminidase S and hexosaminidase C

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685763

Adult (chronic) GM2 gangliosidosis. Atypical spinocerebellar degeneration in a Jewish sibship

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685763

AB variant of infantile GM2 gangliosidosis: deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685763

Biochemical and immunochemical characterization of hexosaminidase P.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685763

Characterization of heteropolymeric hexosaminidase A in human X mouse hybrid cells

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685763

Purification, Biochemical and Immunological Characterisation of Hexosaminidase A from Variant AB of Infantile 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=1685763

Purification of two hexosaminidases from human kidney

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685763

Characterization of β-D-N -acetylhexosaminidases C and S in fibroplasts from control individuals and patients 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=1685763

Characterization and tissue distribution of N-acetyl hexosaminidase C: suggestive evidence for a separate hexosaminidase locus

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685763

Tay-sachs disease and related disorders: Fractionation of brain N-acetyl-beta-hexosaminidase on DEAE-cellulose.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685763

Partial deficiency of hexosaminidase component A in juvenile GM2-gangliosidosis

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685763

The demonstration of multiple heat stable forms of N-acetyl-β-glucosaminidase in normal human serum

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685763

Ganglioside catabolism in hexosaminidase A-deficient adults.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685763

Lysosomal hydrolases: Conversion of acidic to basic forms by neuraminidase

26 September 2018

1 reference

12 December 2020

Conversion of human hexosaminidase A to hexosaminidase "B" by crude Vibrio cholerae neuraminidase preparations: merthiolate is the active factor

1 reference

12 December 2020

Isolation and relationship of human hexosaminidases

1 reference

12 December 2020

Hexosaminidase-A and hexosaminidase-B: studies in Tay-Sachs' and Sandhoff's disease

1 reference

12 December 2020

Source of the pregnancy serum N-acetyl-beta-glucosaminidase isoenzyme during human pregnancy

1 reference

12 December 2020

Tay-Sachs disease: interrelation of hexosaminidases A and B

1 reference

12 December 2020

Subunit structure of human hexosaminidase verified: interconvertibility of hexosaminidase isozymes

1 reference

12 December 2020

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

1 reference

12 December 2020

Segregation within a family of two mutant alleles for hexosaminidase A

1 reference

12 December 2020

Nonenzymatic conversion of human hexosaminidase A

1 reference

12 December 2020

Separation and characterisation of N-acetyl-β-glucosaminidases A and P from maternal serum

1 reference

12 December 2020

Tay-Sachs and Sandhoff-Jatzkewitz diseases: complementation of hexosaminidase A deficiency by somatic cell hybridization

1 reference

12 December 2020

On the molecular basis of Sandhoff's disease

1 reference

12 December 2020

Placental acid hydrolase purification on concanavalin A-sepharose

1 reference

12 December 2020

Studies on human beta-D-N-acetylhexosaminidases. II. Kinetic and structural properties

1 reference

12 December 2020

Identifiers

PMC publication ID

1685763

1 reference

7 August 2017

1 reference