(Q51368431)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22243051%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

title

Early cerebral manifestations in a young female with Fabry disease with skewed X-inactivation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22243051%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22243051%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

author name string

M G Bouwman

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22243051%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

S M Rombach

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22243051%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

G E Linthorst

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22243051%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

B J H M Poorthuis

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22243051%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

R H Lekanne Deprez

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22243051%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

F A Wijburg

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22243051%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

publication date

1 November 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22243051%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22243051%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

volume

80

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22243051%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22243051%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

page(s)

500-502

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22243051%20AND%20SRC:MED&resulttype=core&format=json

CNS manifestations of Fabry's disease

20 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01643.X

The cerebral vasculopathy of Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01643.X

Natural history of Fabry disease in females in the Fabry Outcome Survey.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01643.X

The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease: a cross-sectional study of a large cohort of clinically affected heterozygous women

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01643.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01643.X

Stroke in Fabry's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01643.X

Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01643.X

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01643.X

Six novel mutations in the alpha-galactosidase A gene in families with Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01643.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01643.X

Skewed X-chromosome inactivation is common in fetuses or newborns associated with confined placental mosaicism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01643.X

Inheritance of most X-linked traits is not dominant or recessive, just X-linked

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01643.X

Disease manifestations and X inactivation in heterozygous females with Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01643.X

Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01643.X

Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01643.X

Correction in trans for Fabry disease: expression, secretion and uptake of alpha-galactosidase A in patient-derived cells driven by a high-titer recombinant retroviral vector

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01643.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01643.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01643.X

10.1111/J.1399-0004.2011.01643.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22243051%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference