(Q28345052)

4 July 2017

Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice (English)

1 reference

4 July 2017

1 reference

GOA release 2020-03-11

1 reference

4

R J Desnick

1 reference

4 July 2017

Y A Ioannou

1

1 reference

4 July 2017

K M Zeidner

series ordinal

2

1 reference

4 July 2017

R E Gordon

series ordinal

3

1 reference

4 July 2017

language of work or name

English

0 references

publication date

13 December 2000

1 reference

American Journal of Human Genetics

4 July 2017

1 reference

4 July 2017

68

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4 July 2017

14-25

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4 July 2017

1

1 reference

Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme

4 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234907

Overexpression of human alpha-galactosidase A results in its intracellular aggregation, crystallization in lysosomes, and selective secretion

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234907

Proliferin secreted by cultured cells binds to mannose 6-phosphate receptors

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234907

Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234907

Hepatic Catabolism of Low Density Lipoprotein: Mechanisms and Metabolic Consequences

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234907

Angiokeratoma corporis diffusum--Fabry'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=1234907

Lipid composition of lysosomal multilamellar bodies of male mouse urine

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234907

Enzyme therapy in Fabry disease: differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase A isozymes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234907

Human alpha-galactosidase A: glycosylation site 3 is essential for enzyme solubility

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234907

Glycosphingolipids and plasma lipoproteins: a review.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234907

Enzyme Replacement in Fabry's Disease, an Inborn Error of Metabolism

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234907

Fluorometric assay of proteins in the nanogram range

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234907

Tissue-specific alternative splicing of the beta-galactoside alpha 2,6-sialyltransferase gene.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234907

Human beta-glucuronidase: in vivo clearance and in vitro uptake by a glycoprotein recognition system on reticuloendothelial cells

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234907

Immunological evaluation of repeated administration of erythrocyte-entrapped protein to C3H/HeJ mice

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234907

Verotoxin receptor glycolipid in human renal tissue.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234907

Testosterone-responsive mouse kidney glycosphingolipids: developmental and inbred strain effects.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1234907

Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes

27 November 2018

1 reference

12 December 2020

Replacement Therapy for Inherited Enzyme Deficiency

1 reference

12 December 2020

Quantitative high-performance thin-layer chromatography of lipids in plasma and liver homogenates after direct application of 0.5-μl samples to the silica-gel layer

1 reference

12 December 2020

Purification and characterization of human alpha-galactosidase isozymes: comparison of tissue and plasma forms and evaluation of purification methods

1 reference

12 December 2020

Enzyme therapy XVII: metabolic and immunologic evaluation of alpha- galactosidase A replacement in Fabry disease

1 reference

12 December 2020

Ten-year experience in renal transplantation for Fabry's disease

1 reference

12 December 2020

Testosterone effects on the induction and urinary excretion of mouse kidney glycosphingolipids associated with lysosomes

1 reference

12 December 2020

The effect of phlebotomy as a treatment of Fabry disease

1 reference

12 December 2020

Hepatic endocytosis of various types of mannose-terminated albumins. What is important, sugar recognition, net charge, or the combination of these features

1 reference

12 December 2020

Receptor-mediated endocytosis of galactose and mannose exposing ligands: an electron microscopic study on adult and neonatal cultured rat hepatocytes

1 reference

12 December 2020

Quantitative analysis of the targeting of mannose-terminal glucocerebrosidase. Predominant uptake by liver endothelial cells

1 reference

12 December 2020

Human alpha-galactosidase A: characterization of the N-linked oligosaccharides on the intracellular and secreted glycoforms overexpressed by Chinese hamster ovary cells

1 reference

12 December 2020

Quantitative determination of globotriaosylceramide by immunodetection of glycolipid-bound recombinant verotoxin B subunit

1 reference

12 December 2020

Identifiers

DOI

10.1086/316953

1 reference

4 July 2017

1 reference

4 July 2017

1 reference