Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors (Q38122106)

29 August 2017

Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors (English)

1 reference

29 August 2017

1 reference

Robert J Hopkin

5

0 references

author name string

Dawn A Laney

1

1 reference

29 August 2017

Robin L Bennett

2

1 reference

29 August 2017

Virginia Clarke

3

1 reference

29 August 2017

Angela Fox

4

1 reference

29 August 2017

Jack Johnson

6

1 reference

29 August 2017

Erin O'Rourke

7

1 reference

29 August 2017

Katherine Sims

8

1 reference

29 August 2017

Gerald Walter

9

1 reference

29 August 2017

language of work or name

1 reference

17 July 2013

1 reference

Journal of Genetic Counseling

29 August 2017

1 reference

29 August 2017

22

1 reference

29 August 2017

5

1 reference

29 August 2017

555-564

1 reference

Reduction of globotriaosylceramide in Fabry disease mice by substrate deprivation

29 August 2017

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

Clinical features of and recent advances in therapy for Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

Enzyme replacement therapy for Fabry disease: lessons from two alpha-galactosidase A orphan products and one FDA approval

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

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/10.1007%2FS10897-013-9613-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

New therapies for Fabry's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

Disease rarity, carrier status, and gender: a triple disadvantage for women with Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

Psychiatric disorders in patients with Fabry's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

Genetic evaluation of cardiomyopathy--a Heart Failure Society of America practice guideline

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

The teratogenicity of anticonvulsant drugs

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

Diagnosis of Fabry disease via analysis of family history

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

Social-adaptive and psychological functioning of patients affected by Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

Effects of enzyme replacement therapy in Fabry disease--a comprehensive review of the medical literature.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

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/10.1007%2FS10897-013-9613-3

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/10.1007%2FS10897-013-9613-3

Threat to Parental Role: A Possible Mechanism of Altered Self-Concept Related to Carrier Knowledge

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

Prevalence of lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

Fabry disease - current treatment and new drug development

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

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://api.crossref.org/works/10.1007%2FS10897-013-9613-3

Recommendations and guidelines for the diagnosis and treatment of Fabry nephropathy in adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

21 January 2018

Pediatric Fabry disease

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

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/10.1007%2FS10897-013-9613-3

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/10.1007%2FS10897-013-9613-3

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

Agalsidase benefits renal histology in young patients with Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

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/10.1007%2FS10897-013-9613-3

Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

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/10.1007%2FS10897-013-9613-3

Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: findings from the Fabry Registry.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

Genetic testing for children and adolescents. Who decides?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

Redefinition: coping with normal results from predictive gene testing for neurodegenerative disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

Angiokeratoma: a cutaneous marker of Fabry’s disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10897-013-9613-3

Genetic dilemmas and the child's right to an open future

21 January 2018

1 reference

12 December 2020

High Incidence of the Cardiac Variant of Fabry Disease Revealed by Newborn Screening in the Taiwan Chinese Population

1 reference

12 December 2020

1 reference

12 December 2020

Recommendations for standardized human pedigree nomenclature. Pedigree Standardization Task Force of the National Society of Genetic Counselors.

1 reference

12 December 2020

Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele

1 reference

12 December 2020

Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes

1 reference

12 December 2020

Angiokeratoma corporis diffusum--Fabry's disease

1 reference

12 December 2020

Fabry's disease mimicking familial Mediterranean fever

1 reference

12 December 2020

Agalsidase-beta therapy for advanced Fabry disease: a randomized trial

1 reference

12 December 2020

Attitudes of persons at risk for Fabry's disease towards predictive tests and genetic counselling

1 reference

12 December 2020

10.1007/S10897-013-9613-3

Identifiers

DOI

1 reference

29 August 2017

1 reference