(Q38605264)

4 September 2017

title

A simple method for quantification of plasma globotriaosylsphingosine: Utility for Fabry disease (English)

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4 September 2017

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Andrew Talbot

1

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4 September 2017

Kathy Nicholls

series ordinal

2

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4 September 2017

Janice M Fletcher

series ordinal

3

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4 September 2017

Maria Fuller

series ordinal

4

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4 September 2017

publication date

19 August 2017

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Molecular Genetics and Metabolism

4 September 2017

published in

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Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.

4 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.004

Natural course of Fabry disease: changing pattern of causes of death in FOS - Fabry Outcome Survey.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.004

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.004

Urinary Lipid Profiling for the Identification of Fabry Hemizygotes and Heterozygotes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.004

Lysosomal glycosphingolipid catabolism by acid ceramidase: formation of glycosphingoid bases during deficiency of glycosidases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.004

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.004

Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.004

Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.004

Correction: Globotriaosylceramide Accumulation and Not Alpha-Galactosidase-A Deficiency Causes Endothelial Dysfunction in Fabry Disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.004

Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.004

Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.004

Quantification of globotriaosylsphingosine in plasma and urine of fabry patients by stable isotope ultraperformance liquid chromatography-tandem mass spectrometry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.004

Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+919G>A).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.004

Mutant α-galactosidase A with M296I does not cause elevation of the plasma globotriaosylsphingosine level

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.004

Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.004

Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.004

Recommendations for chamber quantification: a report from the American Society of Echocardiography's Guidelines and Standards Committee and the Chamber Quantification Writing Group, developed in conjunction with the European Association of Echocardio

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.004

Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.004

LC-MS/MS analysis of plasma lyso-Gb3 in Fabry disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.004

The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.004

Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.004

Gene Mutations Versus Clinically Relevant Phenotypes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.004

Biomarkers associated with clinical manifestations in Fabry disease patients with a late-onset cardiac variant mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2017.08.004

10.1016/J.YMGME.2017.08.004

7 January 2021

Identifiers

DOI

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4 September 2017

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