(Q35608416)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26019814%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

title

Broad spectrum of Fabry disease manifestation in an extended Spanish family with a new deletion in the GLA gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26019814%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26019814%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

author name string

Jan Lukas

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26019814%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Joan Torras

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26019814%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Itziar Navarro

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26019814%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Tobias Böttcher

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26019814%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Hermann Mascher

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26019814%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Karl J Lackner

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26019814%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Guenter Fauler

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26019814%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Eduard Paschke

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26019814%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Josep M Cruzado

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26019814%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Ales Dudesek

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26019814%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Matthias Wittstock

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26019814%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Wolfgang Meyer

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26019814%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Arndt Rolfs

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26019814%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

publication date

1 October 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26019814%20AND%20SRC:MED&resulttype=core&format=json

Clinical kidney journal / an academic journal of the ERA-EDTA (European Renal Association - European Dialysis and Transplant Association)

15 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26019814%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

volume

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26019814%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26019814%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

page(s)

395-400

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26019814%20AND%20SRC:MED&resulttype=core&format=json

Urinary total globotriaosylceramide and isoforms to identify women with Fabry disease: a diagnostic test study.

15 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432423

Fabry disease: a review of current management strategies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432423

Assessment of renal pathology and dysfunction in children with Fabry disease.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432423

Screening for Fabry disease in high-risk populations: a systematic review.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432423

Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432423

The microstructure of cornea verticillata in Fabry disease and amiodarone-induced keratopathy: a confocal laser-scanning microscopy study

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432423

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432423

Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432423

Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432423

Is globotriaosylceramide a useful biomarker in Fabry disease?

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432423

Natural history and treatment of renal involvement in Fabry disease.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432423

Partial deletion of human alpha-galactosidase A gene in Fabry disease: direct repeat sequences as a possible cause of slipped mispairing

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432423

Frequency of Fabry disease in patients with small-fibre neuropathy of unknown aetiology: a pilot study

12 July 2018

1 reference

https://api.crossref.org/works/10.1093%2FCKJ%2FSFS115

Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FCKJ%2FSFS115

A case of Fabry disease with central nervous system (CNS) demyelinating lesions: a double trouble?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FCKJ%2FSFS115

Determination of globotriaosylceramide in plasma and urine by mass spectrometry.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FCKJ%2FSFS115

Rapid determination of urinary globotriaosylceramide isoform profiles by electrospray ionization mass spectrometry using stearoyl-d35-globotriaosylceramide as internal standard.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FCKJ%2FSFS115

Biomarkers of Fabry disease nephropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FCKJ%2FSFS115

Plasma globotriaosylsphingosine as a biomarker of Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FCKJ%2FSFS115

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FCKJ%2FSFS115

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FCKJ%2FSFS115

Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4432423

Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population

25 September 2018

1 reference

https://api.crossref.org/works/10.1093%2FCKJ%2FSFS115

The challenges of diagnosing Fabry disease

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26019814

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26019814

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/CKJ/SFS115

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26019814%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26019814%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26019814%20AND%20SRC:MED&resulttype=core&format=json