Mutations of glucocerebrosidase: discrimination of neurologic and non-neurologic phenotypes of Gaucher disease (Q36312252)

13 August 2017

Mutations of glucocerebrosidase: discrimination of neurologic and non-neurologic phenotypes of Gaucher disease (English)

1 reference

13 August 2017

1 reference

Ginns EI

1

1 reference

13 August 2017

Brady RO

2

1 reference

13 August 2017

Pirruccello S

3

1 reference

13 August 2017

Moore C

4

1 reference

13 August 2017

Sorrell S

5

1 reference

13 August 2017

Furbish FS

6

1 reference

13 August 2017

Murray GJ

7

1 reference

13 August 2017

Tager J

8

1 reference

13 August 2017

Barranger JA

9

1 reference

13 August 2017

language of work or name

English

0 references

publication date

1 September 1982

1 reference

13 August 2017

4

1 reference

Proceedings of the National Academy of Sciences of the United States of America

inferred from page(s)

published in

1 reference

13 August 2017

79

1 reference

13 August 2017

18

1 reference

13 August 2017

5607-5610

1 reference

Acute neuronopathic (infantile) and chronic nonneuronopathic (adult) Gaucher disease in full siblings

13 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=346953

Evidence for two dissimilar polypeptide chains in the beta 2 subunit of hexosaminidase

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=346953

Leukocyte beta-glucosidase in homozygotes and heterozygotes for Gaucher disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=346953

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=346953

Neuropathic Gaucher's disease with normal 4-methylumbelliferyl-beta-glucosidase activity in the liver

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=346953

Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=346953

Enzyme replacement therapy in Gaucher's disease: large-scale purification of glucocerebrosidase suitable for human administration

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=346953

Gaucher's Disease. I. Solubilization and Electrophoresis of β-Glucosidase from Leukocytes and Cultured Fibroblasts

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=346953

Properties of beta-glucosidase in cultured skin fibroblasts from controls and patients with Gaucher disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=346953

β -Glucosidase activities in the Norrbotten type of juvenile Gaucher's disease

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=346953

Gaucher disease: isolation and comparison of normal and mutant glucocerebrosidase from human spleen tissue

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=346953

Gaucher's disease Factors affecting the 4-methylum-belliferyl-β-D-glucosidase activity of cultured skin fibroblasts

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=346953

Acid β-glucosidase and the diagnosis of Gaucher's disease in liver and spleen

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=346953

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=346953

Biosynthesis of lysosomal enzymes in fibroblasts. Synthesis as precursors of higher molecular weight.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=346953

Isoenzymes of membrane-bound beta-glucosidase of human spleen

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=346953

Deficiency of steroid β-glucosidase in Gaucher disease

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=346953

Activation of membrane-bound glucosylceramide: beta-glucosidase in fibroblasts cultured from normal and glucosylceramidotic human skin

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=346953

Purification and characterization of a cytosolic broad specificity beta-glucosidase from human liver.

29 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=346953

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

22 September 2018

1 reference

12 December 2020

Blood glucosylceramide levels in Gaucher's disease and its distribution amongst lipoprotein fractions

1 reference

12 December 2020

Electrophoretic separation of neutral and acid beta-glucosidase isozymes in human tissues

1 reference

12 December 2020

Enzymic diagnosis in 27 cases with Gaucher's disease

1 reference

12 December 2020

[Separation by electrofocusing of the molecular forms of splenic beta-glucosidase in normal subjects and Gaucher's disease]

1 reference

12 December 2020

A new group of glucocerebrosidase isozymes found in human white blood cells

1 reference

12 December 2020

Multiple forms of membrane-bound beta-glucosidase in human leucocytes

1 reference

12 December 2020

Properties of the molecular forms of beta-glucosidase and beta-glucocerebrosidase from normal human and Gaucher disease spleen (author's transl)

1 reference

12 December 2020

Monoclonal antibodies against human acid alpha-glucosidase

1 reference

12 December 2020

Multiple molecular forms of lysosomal enzymes in mucolipidosis II

1 reference

12 December 2020

Metabolism of sphingomyelin by intact cultured fibroblasts: differentiation of Niemann-Pick disease type A and B

1 reference

12 December 2020

Gaucher's disease II. Studies on the kinetics of beta-glucosidase and the effects of sodium taurocholate in normal and Gaucher tissues

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.79.18.5607

1 reference

13 August 2017

0 references

1 reference

13 August 2017

1 reference