Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma. (Q36691965)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26070511%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

title

Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma (English)

1 reference

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17 February 2020

5

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17 February 2020

Elisabete Martins

6

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17 February 2020

João Paulo Oliveira

8

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17 February 2020

author name string

Susana Ferreira

1

1 reference

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17 February 2020

Christiane Auray-Blais

2

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17 February 2020

Michel Boutin

3

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17 February 2020

Pamela Lavoie

4

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17 February 2020

Scott Garman

7

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17 February 2020

language of work or name

1 reference

9 June 2015

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17 February 2020

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17 February 2020

volume

447

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17 February 2020

page(s)

96-104

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

17 February 2020

cites work

1 reference

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Chronic kidney disease and an uncertain diagnosis of Fabry disease: approach to a correct diagnosis

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Risk of death in heart disease is associated with elevated urinary globotriaosylceramide

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A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance

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Fibrosis: a key feature of Fabry disease with potential therapeutic implications

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30 September 2017

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Vasculopathy in patients with Fabry disease: current controversies and research directions.

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30 September 2017

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Angiokeratomas of Fabry successfully treated with intense pulsed light

30 September 2017

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X inactivation, female mosaicism, and sex differences in renal diseases

30 September 2017

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Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

30 September 2017

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Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg

30 September 2017

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Alpha-galactosidase A in vascular disease

30 September 2017

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The role of ceramide trihexoside (globotriaosylceramide) in the diagnosis and follow-up of the efficacy of treatment of Fabry disease: a review of the literature

30 September 2017

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Is globotriaosylceramide a useful biomarker in Fabry disease?

30 September 2017

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Enzyme replacement therapy for Fabry disease: lessons from two alpha-galactosidase A orphan products and one FDA approval

30 September 2017

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The molecular defect leading to Fabry disease: structure of human alpha-galactosidase

30 September 2017

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Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy

30 September 2017

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Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy

30 September 2017

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Enzyme replacement therapy for Fabry disease, an inherited nephropathy

30 September 2017

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

30 September 2017

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Enzyme replacement therapy in Fabry disease: a randomized controlled trial

30 September 2017

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30 September 2017

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Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease

30 September 2017

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Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease

30 September 2017

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Metabolomic discovery of novel urinary galabiosylceramide analogs as Fabry disease biomarkers

28 June 2018

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5 September 2018

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5 September 2018

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

5 September 2018

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A metabolomic study to identify new globotriaosylceramide-related biomarkers in the plasma of Fabry disease patients

5 September 2018

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Screening for Fabry disease in patients undergoing dialysis for chronic renal failure in Turkey: identification of new case with novel mutation.

5 September 2018

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Multiplex analysis of novel urinary lyso-Gb3-related biomarkers for Fabry disease by tandem mass spectrometry

5 September 2018

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A metabolomic study reveals novel plasma lyso-Gb3 analogs as Fabry disease biomarkers

5 September 2018

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

5 September 2018

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Novel gb(3) isoforms detected in urine of fabry disease patients: a metabolomic study

5 September 2018

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Immunohistochemical diagnosis of Fabry nephropathy and localisation of globotriaosylceramide deposits in paraffin-embedded kidney tissue sections

5 September 2018

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Genetic analysis of lysosomal alpha-galactosidase A gene in sporadic Parkinson's disease

5 September 2018

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Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.

5 September 2018

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How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?

5 September 2018

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

5 September 2018

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Plasma globotriaosylsphingosine as a biomarker of Fabry disease

5 September 2018

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5 September 2018

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Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study--screening genetic conditions in Portuguese young stroke patients

5 September 2018

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Biomarkers of Fabry disease nephropathy

5 September 2018

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Gb(3)/creatinine biomarkers for Fabry disease: issues to consider.

5 September 2018

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5 September 2018

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5 September 2018

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Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease

5 September 2018

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5 September 2018

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Cardiac and vascular hypertrophy in Fabry disease: evidence for a new mechanism independent of blood pressure and glycosphingolipid deposition.

5 September 2018

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Monitoring enzyme replacement therapy in Fabry disease--role of urine globotriaosylceramide.

5 September 2018

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Fabry disease: renal involvement limited to podocyte pathology and proteinuria in a septuagenarian cardiac variant. Pathologic and therapeutic implications

5 September 2018

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High-throughput screening identified disease-causing mutants and functional variants of α-galactosidase A gene in Japanese male hemodialysis patients

20 October 2018

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Prevalence of Fabry's disease within hemodialysis patients in Spain

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Multiplex tandem mass spectrometry analysis of novel plasma lyso-Gb₃-related analogues in Fabry disease

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12 December 2020

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

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12 December 2020

Fabry disease in patients with end-stage renal failure: the potential benefits of screening

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12 December 2020

Enzyme activity for determination of presence of Fabry disease in women results in 40% false-negative results

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12 December 2020

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12 December 2020

The g.1170C>T polymorphism of the 5' untranslated region of the human alpha-galactosidase gene is associated with decreased enzyme expression--evidence from a family study

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12 December 2020

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

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12 December 2020

Urinary globotriaosylsphingosine-related biomarkers for Fabry disease targeted by metabolomics

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12 December 2020

Identification of a novel mutation and prevalence study for fabry disease in Japanese dialysis patients

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10.1016/J.CCA.2015.06.003

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26070511%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26070511%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

PubMed publication ID

26070511

1 reference