(Q35569302)

8 August 2017

title

Clinical and enzymatic variations in G M1 generalized gangliosidosis (English)

1 reference

8 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5031983

30 March 2023

author name string

H. S. Singer

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5031983

30 March 2023

I. A. Schafer

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5031983

30 March 2023

language of work or name

English

0 references

publication date

1 July 1972

1 reference

full work available at URL

8 August 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/5031983/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%3A5031983

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/5031983/?tool=EBI

30 March 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5031983

https://europepmc.org/articles/PMC1762258

30 March 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5031983

https://europepmc.org/articles/PMC1762258?pdf=render

30 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%3A5031983

American Journal of Human Genetics

30 March 2023

published in

1 reference

8 August 2017

volume

24

1 reference

8 August 2017

issue

4

1 reference

8 August 2017

page(s)

454-463

1 reference

Protein measurement with the Folin phenol reagent

8 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762258

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=1762258

Isolation of beta-galactosidase and beta-glucosidase from brain.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762258

Gm1-gangliosidosis and juvenile cerebral lipidosis. Clinical, histochemical, and chemical study.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762258

Hurler's syndrome: deficiency of a specific beta galactosidase isoenzyme

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762258

Fractionation of 4-methylumbelliferyl-ß-galactosidase Activities in Liver in Gargoylism

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762258

G-M1-gangliosidosis. Correlation of clinical and biochemical data

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762258

Generalized gangliosidosis.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762258

Beta-galactosidase deficiency in the hurler syndrome.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762258

Chemical pathology of G-m-1-gangliosidosis (generalized gangliosidosis).

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762258

Generalized gangliosidosis: impaired cleavage of galactose from a mucopolysaccharide and a glycoprotien.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762258

The abnormalities of lysosomal enzymes in mucopolysacc- haridoses.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762258

Late infantile systemic lipidosis. Major monosialogangliosidosis. Delineation of two types.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762258

An improved procedure for starch-gel electrophoresis: further variations in the serum proteins of normal individuals

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762258

Glycosidases in the nervous system. 3. Separation, purification, and substrate specificities of beta-galactosidases and beta-glucuronidase from brain.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762258

Generalized gangliosidosis: beta-galactosidase deficiency.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762258

26 September 2018

1 reference

12 December 2020

Isolation and characterization of keratan sulfates from the liver of a patient with GM1-gangliosidosis type I

1 reference

PubMed

12 December 2020

GM1-gangliosidosis Types 1 and 2: Enzymatic Differences in Cultured Fibroblasts

1 reference

PubMed

12 December 2020

Differential effect of chloride ions on β-galactosidase isoenzymes: A method for separate assay

1 reference

PubMed

12 December 2020

Identifiers

PMC publication ID

1762258

1 reference

8 August 2017

1 reference