(Q80130911)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15162124%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

title

Remarkable variability in renal disease in a large Slovenian family with Fabry disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15162124%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

1 reference

Franc Verovnik

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15162124%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Davorin Benko

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15162124%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Bojan Vujkovac

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15162124%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

Gabor E Linthorst

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15162124%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

publication date

1 August 2004

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15162124%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

28 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15162124%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

volume

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15162124%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

issue

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15162124%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

page(s)

678-681

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15162124%20AND%20SRC:MED&resulttype=core&format=json

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201184

28 December 2019

exact match

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201184

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201184

7 January 2021

Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201184

7 January 2021

Recombinant enzyme therapy for Fabry disease: absence of editing of human alpha-galactosidase A mRNA.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201184

7 January 2021

alpha-Galactosidase A deficiency in Dutch patients on dialysis: a critical appraisal of screening for Fabry disease.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201184

7 January 2021

Cerebrovascular complications of Fabry's disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201184

7 January 2021

Dolichoectatic basilar artery: a review of 23 cases

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201184

7 January 2021

Clinical manifestation in female Fabry disease patients

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201184

7 January 2021

Heterozygote detection in fabry disease utilizing multiple enzyme activities

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201184

7 January 2021

Heterozygote detection in angiokeratoma corporis diffusum (Anderson-Fabry disease). Studies on plasma, leucocytes, and hair follicles

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201184

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201184

7 January 2021

Identifiers

DOI

10.1038/SJ.EJHG.5201184

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15162124%20AND%20SRC:MED&resulttype=core&format=json

28 December 2019

1 reference