(Q88612142)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27773586%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27773586%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

1 reference

1 reference

Albina Nowak

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27773586%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Thomas P Mechtler

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27773586%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

Robert J Desnick

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27773586%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

David C Kasper

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27773586%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

publication date

19 October 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27773586%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

26 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27773586%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

volume

120

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27773586%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

issue

1-2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27773586%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

page(s)

57-61

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27773586%20AND%20SRC:MED&resulttype=core&format=json

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

26 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.10.006

X-chromosome inactivation in female patients with Fabry disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.10.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.10.006

An Atypical Variant of Fabry's Disease with Manifestations Confined to the Myocardium

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.10.006

Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.10.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.10.006

Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.10.006

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.10.006

Organ manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.10.006

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.10.006

Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.10.006

Gene Mutations Versus Clinically Relevant Phenotypes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.10.006

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.2016.10.006

Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.10.006

Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.10.006

Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.10.006

Case report of a 45-year old female Fabry disease patient carrying two alpha-galactosidase A gene mutation alleles.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.10.006

Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.10.006

10.1016/J.YMGME.2016.10.006

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27773586%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

1 reference