(Q67906322)

English

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

scientific article published on 01 January 1991

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1838125%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

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

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1838125%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

Maria Gil Ribeiro

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1838125%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

Maria Clara Pereira Sá Miranda

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1838125%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

author name string

R A Pinto

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1838125%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

M R Dos Santos

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1838125%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

M Maia

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1838125%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

publication date

1 January 1991

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1838125%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1838125%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

14

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1838125%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1838125%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

715-720

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1838125%20AND%20SRC:MED&resulttype=core&format=json

19 September 2019

https://scigraph.springernature.com/pub.10.1007/bf01799940

0 references

Mutation in GM2-gangliosidosis B1 variant

1 reference

https://pubmed.ncbi.nlm.nih.gov/1838125

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1838125

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Electrophoretic study of hexosaminidases. Hexosaminidase C.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1838125

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

B1 variant of GM2 gangliosidosis in a 12-year-old patient

1 reference

https://pubmed.ncbi.nlm.nih.gov/1838125

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sodium taurocholate effect on beta-glucosidase activity: a new approach for identification of Gaucher disease using the synthetic substrate and leucocytes

1 reference

https://pubmed.ncbi.nlm.nih.gov/1838125

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1838125

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biosynthesis and maturation of glucocerebrosidase in Gaucher fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/1838125

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1838125

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1838125

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A routine method for the establishment of permanent growing lymphoblastoid cell lines

1 reference

https://pubmed.ncbi.nlm.nih.gov/1838125

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Protein measurement with the Folin phenol reagent

1 reference

https://pubmed.ncbi.nlm.nih.gov/1838125

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1838125

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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