(Q28318835)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A102189

23 April 2022

K. Hirschhorn

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A102189

full work available at URL

23 April 2022

language of work or name

English

0 references

publication date

July 1978

0 references

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/102189/?tool=EBI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A102189

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/102189/pdf/?tool=EBI

23 April 2022

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%3A102189

https://europepmc.org/articles/PMC1685624

23 April 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A102189

https://europepmc.org/articles/PMC1685624?pdf=render

23 April 2022

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%3A102189

American Journal of Human Genetics

23 April 2022

published in

0 references

volume

30

0 references

issue

4

0 references

page(s)

346-58

0 references

cites work

Protein measurement with the Folin phenol reagent

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685624

Gaucher's disease: cases in 5 related Negro sibships

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685624

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685624

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685624

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685624

Genetics and the Sphingolipidoses

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685624

beta-Glucoside hydrolase activity of normal and glucosylceramidotic cultured human skin fibroblasts

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685624

Cell-specific differences in membrane β-glucosidase from normal and gaucher cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685624

Purification and properties of a heat-stable glucocerebrosidase activating factor from control and Gaucher spleen

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685624

Identity of 'acid' beta-glucosidase and glucocerebrosidase in human spleen

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685624

Chronic Gaucher's disease: heat-resistance of leukocyte glucocerebrosidase in relation to some clinical parameters

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685624

Clinical and biochemical aspects of chronic Gaucher's disease.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685624

Deficiency of steroid β-glucosidase in Gaucher disease

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685624

Specificity of low molecular weight glycoprotein effector of lipid glycosidase

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685624

Neurological signs in a juvenile form of Gaucher's disease.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685624

Synthetic inhibitors of glucocerebroside β-glucosidase

27 November 2018

1 reference

12 December 2020

GAUCHER'S DISEASE. HEREDITARY TRANSMISSION AND RACIAL DISTRIBUTION

1 reference

12 December 2020

Isolation and Characterization of Glucocerebrosidase from Human Placental Tissue

1 reference

12 December 2020

β-Glucosidase activities in human tissues findings in Gaucher's disease

1 reference

12 December 2020

The diagnosis of the adult type of Gaucher's disease and its carrier state by demonstration of deficiency of beta-glucosidase activity in peripheral blood leukocytes

1 reference

12 December 2020

Chronic Gaucher's disease; clinical observations on 34 patients

1 reference

12 December 2020

Arylsulfatase B deficiency in Maroteaux-Lamy syndrome: Cellular studies and carrier identification

1 reference

12 December 2020

Identifiers

PMC publication ID

1685624

0 references