Characterization of unusual hexosaminidase A (HEX A) deficient human mutants (Q24674888)

1

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L Tennant

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M L Veath

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C R Scott

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W E Bucknall

American Journal of Human Genetics

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language of work or name

English

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publication date

November 1978

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published in

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volume

30

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issue

6

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page(s)

602-8

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cites work

Protein measurement with the Folin phenol reagent

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685872

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685872

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685872

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685872

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685872

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685872

Molecular genetics of GM1 beta-galactosidase

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685872

Ganglioside GM2 N-acetyl-ß-D-gafactosaminidase and asialo GM2 (GA2) N-acetyl-ß-D-galactosaminidase; studies in human skin fibroblasts

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685872

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685872

Ganglioside catabolism in hexosaminidase A-deficient adults.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685872

I-cell disease: biochemical studies.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685872

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685872

Absence of Hexosaminidase a and B in a Normal Adult

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685872

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685872

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685872

Differential assay of human hexosaminidases A and B

30 May 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

N-acetyl-beta-hexosaminidase: role in the degradation of glycosaminoglycans

1 reference

12 December 2020

Steroid hexosaminidase activity in Tay-Sachs and Sandhoff-Jatzkewitz diseases

1 reference

12 December 2020

Multiple components of beta-N-acetylhexosaminidase from equine kidney. Their action on glycolipids and allied oligosaccharides

1 reference

12 December 2020

Segregation within a family of two mutant alleles for hexosaminidase A

1 reference

12 December 2020

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

1 reference

12 December 2020