(Q37109597)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18339187%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

review article

1 reference

title

Early therapeutic intervention in females with Fabry disease? (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18339187%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18339187%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

author name string

Derralynn A Hughes

series ordinal

1

1 reference

18 August 2017

language of work or name

English

0 references

publication date

1 April 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18339187%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18339187%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

volume

97

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18339187%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

issue

457

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18339187%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

page(s)

41-47

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18339187%20AND%20SRC:MED&resulttype=core&format=json

Fabry's Disease: Alpha-Galactosidase Deficiency

4 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00649.X

Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00649.X

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00649.X

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00649.X

A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00649.X

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00649.X

Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00649.X

Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00649.X

Effect of enzyme-replacement therapy on gastrointestinal symptoms in Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00649.X

Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00649.X

Fabry disease: overall effects of agalsidase alfa treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00649.X

Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00649.X

Relief of gastrointestinal symptoms under enzyme replacement therapy [corrected] in patients with Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00649.X

Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00649.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.1651-2227.2008.00649.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.1651-2227.2008.00649.X

Gene action in the X-chromosome of the mouse (Mus musculus L.)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00649.X

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/10.1111%2FJ.1651-2227.2008.00649.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.1651-2227.2008.00649.X

Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00649.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00649.X

Enzyme replacement therapy in heterozygous females with Fabry disease: results of a phase IIIB study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00649.X

The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00649.X

The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00649.X

The ultrastructural characteristics of eccrine sweat glands in a Fabry disease patient with hypohidrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00649.X

Quality of life of patients with Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00649.X

Assessment of health-related quality-of-life in males with Anderson Fabry Disease before therapeutic intervention

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00649.X

Comparison of health-related quality of life between heterozygous women with Fabry disease, a healthy control population, and patients with other chronic disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00649.X

Enzyme replacement therapy in orphan and ultra-orphan diseases: the limitations of standard economic metrics as exemplified by Fabry-Anderson disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.2008.00649.X

10.1111/J.1651-2227.2008.00649.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18339187%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

1 reference