(Q67831529)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1776640%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

title

Molecular analysis of Gaucher disease: screening of patients in the Montreal/Quebec region (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1776640%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

Molecular analysis of gaucher disease: Screening of patients in the Montreal/Quebec region (English)

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410418

21 November 2022

1 reference

Choy FY

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1776640%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

Woo M

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1776640%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

Der Kaloustian VM

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1776640%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1776640

21 November 2022

publication date

1 December 1991

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1776640%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

15 December 1991

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1776640

full work available at URL

21 November 2022

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.1320410418

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410418

https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.1320410418

21 November 2022

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410418

American Journal of Medical Genetics Part A

21 November 2022

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1776640%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

volume

41

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1776640%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1776640%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

page(s)

469-474

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1776640%20AND%20SRC:MED&resulttype=core&format=json

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

18 September 2019

cites work

2

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410418

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

21 November 2022

4

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410418

Gaucher disease: the effects of phosphatidylserine on glucocerebrosidase from normal and Gaucher fibroblasts

21 November 2022

5

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410418

Purification of lysosomal membrane-bound glucocerebrosidase from human cultured fibroblasts using high-performance liquid chromatography

21 November 2022

6

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410418

Gaucher disease: accurate identification of asymptomatic French-Canadian carrier using nonlabeled authentic sphingolipid substrate N-palmitoyl dihydroglucocerebroside

21 November 2022

7

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410418

Molecular analysis of Gaucher disease in a Vietnamese-Czechoslovak patient with high residual glucocerebrosidase activity

21 November 2022

8

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410418

Gaucher disease type 1: cloning and characterization of a cDNA encoding acid beta-glucosidase from an Ashkenazi Jewish patient

21 November 2022

11

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410418

Colony hybridization: a method for the isolation of cloned DNAs that contain a specific gene

21 November 2022

12

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410418

Sequence of two alleles responsible for Gaucher disease

21 November 2022

13

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410418

Non-existence of a tight association between a 444leucine to proline mutation and phenotypes of Gaucher disease: high frequency of a NciI polymorphism in the non-neuronopathic form

21 November 2022

18

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410418

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

21 November 2022

20

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410418

A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease

21 November 2022

23

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410418

Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals

21 November 2022

24

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410418

Prediction of severity of Gaucher's disease by identification of mutations at DNA level

21 November 2022

27

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410418

A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder

21 November 2022

28

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320410418

21 November 2022

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1776640%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

1 reference