(Q33676684)

28 July 2017

Intrafamilial clinical variability of type 1 Gaucher disease in a French-Canadian family (English)

1 reference

https://api.crossref.org/works/10.1136/JMG.25.5.322

28 July 2017

1 reference

4 January 2023

1 reference

F. Y. Choy

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3385740

4 January 2023

language of work or name

English

0 references

publication date

1 May 1988

1 reference

full work available at URL

28 July 2017

http://jmg.bmjjournals.com/cgi/content/abstract/25/5/322

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3385740

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/3385740/?tool=EBI

4 January 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3385740

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/3385740/pdf/?tool=EBI

4 January 2023

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3385740

https://europepmc.org/articles/PMC1050458

4 January 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3385740

https://europepmc.org/articles/PMC1050458?pdf=render

4 January 2023

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A3385740

https://syndication.highwire.org/content/doi/10.1136/jmg.25.5.322

4 January 2023

1 reference

https://api.crossref.org/works/10.1136/JMG.25.5.322

Journal of Medical Genetics

4 January 2023

published in

1 reference

28 July 2017

25

1 reference

28 July 2017

5

1 reference

28 July 2017

322-325

1 reference

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

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050458

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050458

Gaucher disease: comparative study of acid phosphatase and glucocerebrosidase in normal and type-1 Gaucher tissues.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050458

In situ radiation-inactivation size of fibroblast membrane-bound acid beta-glucosidase in Gaucher type 1, type 2 and type 3 disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050458

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050458

Genetic heterogeneity in Gaucher disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050458

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

21 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/3385740

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

0 references

1 reference

28 July 2017

1 reference