Recombinant enzyme therapy for Fabry disease: absence of editing of human alpha-galactosidase A mRNA. (Q30873303)

24 September 2017

Recombinant enzyme therapy for Fabry disease: absence of editing of human alpha-galactosidase A mRNA. (English)

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24 September 2017

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Dave Speijer

2

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Gabor E Linthorst

series ordinal

3

object named as

Gabor E Linthorst

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24 September 2017

6

Johannes M F G Aerts

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24 September 2017

Wilma E Donker-Koopman

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4

object named as

Wilma G Donker-Koopman

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24 September 2017

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Anneke Strijland

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24 September 2017

Daniël Blom

1

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24 September 2017

language of work or name

English

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publication date

6 December 2002

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American Journal of Human Genetics

24 September 2017

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24 September 2017

72

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24 September 2017

1

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24 September 2017

23-31

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Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420010

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420010

The human chitotriosidase gene. Nature of inherited enzyme deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420010

Regulation of serotonin-2C receptor G-protein coupling by RNA editing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420010

Mass Spectrometric Sequencing of Proteins from Silver-Stained Polyacrylamide Gels

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420010

Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420010

Editing of human alpha-galactosidase RNA resulting in a pyrimidine to purine conversion.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420010

High level transient expression of a chloramphenicol acetyl transferase gene by DEAE-dextran mediated DNA transfection coupled with a dimethyl sulfoxide or glycerol shock treatment.

21 June 2018

1 reference

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Characterization of a Blood Group B Glycolipid, Accumulating in the Pancreas of a Patient with Fabry's Disease

21 June 2018

1 reference

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A novel form of tissue-specific RNA processing produces apolipoprotein-B48 in intestine

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420010

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420010

Fabry disease: isolation of a cDNA clone encoding human alpha-galactosidase A

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420010

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420010

Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein

21 June 2018

1 reference

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Apolipoprotein B-48 is the product of a messenger RNA with an organ-specific in-frame stop codon

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=420010

Enzyme-replacement therapy for Anderson-Fabry disease

25 November 2018

1 reference

12 December 2020

Neutral glycolipids of human kidney isolation, identification, and fatty acid composition

1 reference

12 December 2020

Diagnosis of Glycosphingolipidoses by Urinary-Sediment Analysis

1 reference

12 December 2020

Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease

1 reference

12 December 2020

Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease

1 reference

12 December 2020

Human trifunctional protein deficiency: A new disorder of mitochondrial fatty acid β-oridation

1 reference

12 December 2020

Identifiers

DOI

10.1086/345309

1 reference

24 September 2017

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24 September 2017

PubMed publication ID

12471562

1 reference