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

Fabry Disease in Genetic Counseling Practice: Recommendations of the National Society of Genetic Counselors

Published:2002-04 Issue:2 Volume:11 Page:121-146
ISSN:1059-7700
Container-title:Journal of Genetic Counseling
language:en
Short-container-title:Jrnl of Gene Coun

Author:

Bennett Robin L.¹,Hart Kimberly A.²,O'Rourke Erin³,Barranger John A.³,Johnson Jack⁴,MacDermot Kay D.⁵,Pastores Gregory M.⁶,Steiner Robert D.⁷,Thadhani Ravi⁸

Affiliation:

1. Department of Medicine, Division of Medical GeneticsUniversity of WashingtonSeattleWashington

2. Department of Pediatrics, Division of Medical GeneticsUniversity of CaliforniaSan FranciscoCalifornia

3. Department of Human Genetics, Graduate School of Public HealthUniversity of PittsburghPittsburghPennsylvania

4. Fabry Support and Information GroupConcordiaMissouri

5. Department of MedicineAddenbrooke's HospitalCambridgeUnited Kingdom

6. Department of Neurology and PediatricsNew York University School of MedicineNew YorkNew York

7. Departments of Pediatrics and Molecular and Medical Genetics, Child Development and Rehabilitation CenterDorenbecher Children's Hospital, Oregon Health & Science UniversityPortlandOregon

8. Department of Medicine and Renal UnitMassachusetts General Hospital, Harvard Medical SchoolBostonMassachusetts

Publisher

Wiley

Subject

Genetics(clinical)

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1023/A%3A1014545521753

Reference51 articles.

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

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3. Points to consider: Ethical, legal and psychological implications of genetic testing in children and adolescents;ASHG/ACMG Reports;Am J Hum Genet,1995

4. Fabry disease: twenty novel α-galactosidase A mutations causing the classical phenotype

5. 22 novel mutations in the α‐galactosidase A gene and genotype/phenotype correlations including mild hemizygotes and severely affected heterozygotes;Ashton‐Prolla P;J Invest Med,2000

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