(Q81317450)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15669682%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

title

Gaucher disease: variability in phenotype among siblings (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15669682%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

1 reference

1 reference

D Amato

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15669682%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

T Stachiw

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15669682%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

J T R Clarke

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15669682%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

G E Rivard

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15669682%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

publication date

1 January 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15669682%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

7 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15669682%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

volume

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15669682%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

page(s)

659-669

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15669682%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15669682%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1023/b:boli.0000042983.60840.f3

7 January 2020

exact match

0 references

cites work

Acute neuronopathic (type 2) Gaucher disease in siblings in southern Thailand

1 reference

12 December 2020

Managing public payment for high-cost, high-benefit treatment: enzyme replacement therapy for Gaucher's disease in Ontario

1 reference

12 December 2020

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

1 reference

12 December 2020

Role of pH in determining the cell-type-specific residual activity of glucocerebrosidase in type 1 Gaucher disease

1 reference

12 December 2020

Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease

1 reference

12 December 2020

Analysis of the beta-glucocerebrosidase gene in Czech and Slovak Gaucher patients: mutation profile and description of six novel mutant alleles.

1 reference

12 December 2020

Discrepancies between genotype and phenotype in hematology: an important frontier

1 reference

12 December 2020

Glycosphingolipid studies of visceral tissues and brain from type 1 Gaucher disease variants

1 reference

12 December 2020

Enzyme replacement therapy for Gaucher's disease: the early Canadian experience

1 reference

12 December 2020

Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype

1 reference

12 December 2020

Analysis of the β-Glucocerebrosidase Gene in Czech and Slovak Gaucher Patients: Mutation Profile and Description of Six Novel Mutant Alleles

1 reference

Crossref

https://api.crossref.org/works/10.1023%2FB%3ABOLI.0000042983.60840.F3

7 January 2021