(Q74618469)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11600137%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

title

Mutation analysis of the acid beta-glucosidase gene in a patient with type 3 Gaucher disease and neutralizing antibody to alglucerase (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11600137%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11600137%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

author name string

C R Kaneski

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11600137%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

R O Brady

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11600137%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

language of work or name

English

0 references

publication date

1 November 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11600137%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11600137%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

volume

483

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11600137%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

issue

1-2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11600137%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

page(s)

89-94

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11600137%20AND%20SRC:MED&resulttype=core&format=json

METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE.

12 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2801%2900232-9

Gaucher disease: a prototype for molecular medicine

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2801%2900232-9

Management of neutralizing antibody to Ceredase in a patient with type 3 Gaucher disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2801%2900232-9

The role of neurogenetics in Gaucher disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2801%2900232-9

Molecular cloning and nucleotide sequence of human glucocerebrosidase cDNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2801%2900232-9

The human glucocerebrosidase gene and pseudogene: structure and evolution

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2801%2900232-9

Polymorphisms in the human glucocerebrosidase gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2801%2900232-9

Exhaustive screening of the acid beta-glucosidase gene, by fluorescence-assisted mismatch analysis using universal primers: mutation profile and genotype/phenotype correlations in Gaucher disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2801%2900232-9

Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2801%2900232-9

Comparison of the chromosomal localization of murine and human glucocerebrosidase genes and of the deduced amino acid sequences

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2801%2900232-9

Use of denaturing gradient gel electrophoresis to identify mutant sequences in the beta-glucocerebrosidase gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2801%2900232-9

Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C]] in Spanish Gaucher disease patients. Mutation in brief no. 251. Online

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2801%2900232-9

Gaucher's disease: lack of antibody response in 12 patients following repeated intravenous infusions of mannose terminal glucocerebrosidase.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0027-5107%2801%2900232-9

10.1016/S0027-5107(01)00232-9

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11600137%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

1 reference