(Q37049148)

17 August 2017

title

Diagnosis of Fabry disease via analysis of family history (English)

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17 August 2017

0 references

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Dawn A Laney

1

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17 August 2017

Paul M Fernhoff

series ordinal

2

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17 August 2017

publication date

3 January 2008

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Journal of Genetic Counseling

17 August 2017

published in

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17 August 2017

volume

17

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17 August 2017

issue

1

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17 August 2017

page(s)

79-83

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

17 August 2017

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS10897-007-9128-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

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes

1 reference

12 December 2020

Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors.

1 reference

12 December 2020

Fabry disease: guidelines for the evaluation and management of multi-organ system involvement

1 reference

12 December 2020

Enzyme replacement therapy in Fabry disease

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1007/S10897-007-9128-X

Identifiers

DOI

1 reference

release_r2hfojyfrzdhrldrhxhrmrbfxq

17 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/r2hfojyfrzdhrldrhxhrmrbfxq

24 November 2022

mapped directly with Wikidata item

1 reference