(Q42025687)

15 October 2017

Clinical, enzymatic, and molecular characterisation of a Portuguese family with a chronic form of GM2-gangliosidosis B1 variant (English)

1 reference

15 October 2017

Ribeiro MG

1

1 reference

15 October 2017

Sonin T

2

1 reference

15 October 2017

Pinto RA

3

1 reference

15 October 2017

Fontes A

4

1 reference

15 October 2017

Ribeiro H

5

1 reference

15 October 2017

Pinto E

6

1 reference

15 October 2017

Palmeira MM

7

1 reference

15 October 2017

Sá Miranda MC

8

1 reference

15 October 2017

language of work or name

English

0 references

publication date

1 April 1996

1 reference

Journal of Medical Genetics

15 October 2017

1 reference

15 October 2017

33

1 reference

15 October 2017

4

1 reference

15 October 2017

341-343

1 reference

Structure and expression of the mouse beta-hexosaminidase genes, Hexa and Hexb.

15 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050588

Variant of GM2-gangliosidosis with hexosaminidase A having a severely changed substrate specificity

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050588

Molecular cloning of the cDNA which encodes beta-N-acetylhexosaminidase A from Dictyostelium discoideum. Complete amino acid sequence and homology with the human enzyme.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050588

Intermediate forms of human beta-N-acetylhexosaminidase lack activity towards 4-methylumbelliferyl beta-N-acetylglucosaminide 6-sulphate

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050588

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050588

Juvenile GM2 gangliosidosis variant B1: clinical and biochemical study in seven patients

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050588

GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene abnormalities in seven patients

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050588

The juvenile and chronic forms of GM2 gangliosidosis: clinical and enzymatic heterogeneity.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050588

Biochemical and Molecular Aspects of Late-Onset GM2-Gangliosidosis: B1 Variant as a Prototype

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050588

GM2-gangliosidosis B1 variant: analysis of beta-hexosaminidase alpha gene mutations in 11 patients from a defined region in Portugal

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050588

Biochemical Basis of Late-Onset Neurolipidoses

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050588

Evidence for two different active sites on human beta-hexosaminidase A. Interaction of GM2 activator protein with beta-hexosaminidase A.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050588

Tay-Sachs disease: intron 7 splice junction mutation in two Portuguese patients

17 August 2018

1 reference

12 December 2020

Mutation in GM2-gangliosidosis B1 variant

1 reference

12 December 2020

Biochemical characterization of beta-hexosaminidase in different biological specimens from eleven patients with GM2-gangliosidosis B1 variant

1 reference

12 December 2020

Collaborative study of the molecular epidemiology of Tay-Sachs disease in Europe

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.33.4.341

1 reference

15 October 2017

1 reference

15 October 2017

PubMed publication ID

8730294

1 reference