(Q35569061)

8 August 2017

Adult Gaucher's disease: kindred studies and demonstration of a deficiency of acid beta-glucosidase in cultured fibroblasts (English)

1 reference

8 August 2017

1 reference

M. W. Ho

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5012691

28 March 2023

J. Seck

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5012691

28 March 2023

D. Schmidt

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5012691

28 March 2023

M. L. Veath

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5012691

28 March 2023

W. Johnson

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5012691

28 March 2023

R. O. Brady

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5012691

28 March 2023

J. S. O'Brien

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5012691

28 March 2023

language of work or name

English

0 references

publication date

1 January 1972

1 reference

full work available at URL

8 August 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/5012691/pdf/?tool=EBI

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%3A5012691

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/5012691/?tool=EBI

28 March 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5012691

https://europepmc.org/articles/PMC1762143

28 March 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5012691

https://europepmc.org/articles/PMC1762143?pdf=render

28 March 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%3A5012691

American Journal of Human Genetics

28 March 2023

published in

1 reference

8 August 2017

24

1 reference

8 August 2017

37-45

1 reference

8 August 2017

1

1 reference

Protein measurement with the Folin phenol reagent

8 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762143

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762143

Separation and properties of β-galactosidase, β-glucosidase, β-glucuronidase and N-acetyl-β-glucosaminidase from rat kidney

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762143

Beta-glucosidase activity in fibroblasts from homozygotes and heterozygotes for Gaucher's disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762143

Sphingolipid hydrolases in brain tissue of patients with generalized gangliodosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762143

Identity of beta-glucosidase, beta-xylosidase and one of the beta-galactosidase activities in human liver when assayed with 4-methylumbelliferyl-beta-D-glycosides studies in cases of Gaucher's disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762143

Detection of the defect of Gaucher's disease and its carrier state in peripheral-blood leucocytes

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/5012691

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

1 reference

https://pubmed.ncbi.nlm.nih.gov/5012691

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

GAUCHER'S DISEASE. HEREDITARY TRANSMISSION AND RACIAL DISTRIBUTION

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/5012691

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

PMCID

1762143

1 reference

8 August 2017

1 reference