Fabry Disease Practice Guidelines: Recommendations of the National Society of Genetic Counselors-Reference-Cited by-同舟云学术

Fabry Disease Practice Guidelines: Recommendations of the National Society of Genetic Counselors

Published:2013-07-17 Issue:5 Volume:22 Page:555-564
ISSN:1059-7700
Container-title:Journal of Genetic Counseling
language:en
Short-container-title:Jrnl of Gene Coun

Author:

Laney Dawn A.¹,Bennett Robin L.²,Clarke Virginia³,Fox Angela⁴,Hopkin Robert J.⁵,Johnson Jack⁶,O'Rourke Erin⁷,Sims Katherine⁸,Walter Gerald⁹

Affiliation:

1. Medical GeneticsEmory University2165 North Decatur RoadDecaturGA30033USA

2. Medical GeneticsUniversity of Washington Medical Center Medical GeneticsBox 357720SeattleWA98195‐7720USA

3. Massachusetts General Hospital185 Cambridge ST, Simches 5236BostonMA02114USA

4. Sera Prognostics2749 East Parleys Way, Suite 200Salt Lake CityUT84109USA

5. Cincinnati Children's Hospital Medical CenterCincinnatiOH84109USA

6. Fabry Support and Information GroupPO Box 510, 108 NE 2nd St.ConcordiaMO64020USA

7. Genzyme CorporationGenzyme500 Kendall StreetCambridgeMA02142USA

8. Massachusetts General Hospital/Harvard Medical School185 Cambridge St., Simches 5236BostonMA02114USA

9. National Fabry Disease Foundation4301 Connecticut Ave. N.W., Suite 404Washington DC20008USA

Publisher

Wiley

Subject

Genetics(clinical)

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1007/s10897-013-9613-3

Reference71 articles.

1. Reduction of globotriaosylceramide in Fabry disease mice by substrate deprivation

2. Angiokeratoma: a cutaneous marker of Fabry’s disease

3. 22 novel mutations in the alpha‐galactosidase A gene and genotype/phenotype correlations including mild hemizygotes and severely affected heterozygotes;Ashton‐Prolla P.;Journal of Investigative Medicine,2000

4. Agalsidase-Beta Therapy for Advanced Fabry Disease

5. The Practical Guide to the Genetic Family History

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