(Q41571017)

3 October 2017

Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease (English)

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3 October 2017

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Bouwien E Smid

1

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3 October 2017

Linda van der Tol

2

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3 October 2017

Marieke Biegstraaten

3

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3 October 2017

Gabor E Linthorst

4

1 reference

3 October 2017

Carla E M Hollak

5

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3 October 2017

Ben J H M Poorthuis

6

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3 October 2017

language of work or name

English

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publication date

16 January 2015

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Journal of Medical Genetics

3 October 2017

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3 October 2017

52

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3 October 2017

4

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3 October 2017

262-268

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High incidence of later-onset fabry disease revealed by newborn screening

3 October 2017

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102872

Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102872

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102872

Screening patients with hypertrophic cardiomyopathy for Fabry disease using a filter-paper test: the FOCUS study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102872

Serum globotriaosylceramide assay as a screening test for fabry disease in patients with ESRD on maintenance dialysis in Korea

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102872

Prevalence of Fabry disease in young patients with cryptogenic ischemic stroke

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102872

Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102872

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102872

Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102872

Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102872

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102872

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102872

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102872

Plasma globotriaosylsphingosine as a biomarker of Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102872

Quantification of the Fabry marker lysoGb3 in human plasma by tandem mass spectrometry.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102872

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102872

A case of Fabry nephropathy with histological features of oligonephropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102872

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102872

Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset Fabry mutation (IVS4 + 919G > A).

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102872

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102872

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102872

Fabry disease: biochemical, pathological and structural studies of the α-galactosidase A with E66Q amino acid substitution.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102872

Phenotypical characterization of α-galactosidase A gene mutations identified in a large Fabry disease screening program in stroke in the young

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102872

A new equation to estimate glomerular filtration rate

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102872

Questioning the Pathogenic Role of the GLA p.Ala143Thr "Mutation" in Fabry Disease: Implications for Screening Studies and ERT

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102872

Gene Mutations Versus Clinically Relevant Phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102872

10.1136/JMEDGENET-2014-102872

21 January 2018

Identifiers

DOI

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3 October 2017

1 reference