ECHS1 disease in two unrelated families of Samoan descent: Common variant ‐ rare disorder-Reference-Cited by-同舟云学术

ECHS1 disease in two unrelated families of Samoan descent: Common variant ‐ rare disorder

Published:2020-10-28 Issue:1 Volume:185 Page:157-167
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Simon Mariella T.¹²^ORCID,Eftekharian Shaya S.¹³,Ferdinandusse Sacha⁴,Tang Sha⁵,Naseri Take⁶,Reupena Muagututi'a Sefuiva⁷,McGarvey Stephen T.⁸,Minster Ryan L.⁹,Weeks Daniel E.⁹¹⁰^ORCID,Nguyen Daniel D.¹¹¹,Lee Sansan¹²,Ellsworth Katarzyna A.¹³,Vaz Frédéric M.¹⁴^ORCID,Dimmock David¹³,Pitt James¹⁴,Abdenur Jose E.¹¹⁵,

Affiliation:

1. Division of Metabolic Disorders CHOC Children's Hospital Orange California USA

2. Department of Human Genetics University of California Los Angeles California USA

3. College of Osteopathic Medicine Western University of Health Sciences Pomona California USA

4. Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Amsterdam UMC University of Amsterdam, Amsterdam Gastroenterology and Metabolism Amsterdam The Netherlands

5. Department of Clinical Genomics Ambry Genetics California USA

6. Ministry of Health Apia Samoa

7. Lutia i Puava ae Mapu i Fagalele Apia Samoa

8. Department of Epidemiology International Health Institute, Brown University School of Public Health Providence Rhode Island USA

9. Department of Human Genetics Graduate School of Public Health, University of Pittsburgh Pittsburgh Pennsylvania USA

10. Department of Biostatistics Graduate School of Public Health, University of Pittsburgh Pittsburgh Pennsylvania USA

11. Department of Biochemistry California State University Long Beach Long Beach California USA

12. Hawaii Community Genetics Hawai'i Pacific Health Honolulu Hawaii USA

13. Rady Children's Institute for Genomic Medicine San Diego California USA

14. Department of Paediatrics University of Melbourne, Victorian Clinical Genetics Services, Murdoch Childrens Research Institute Melbourne Victoria Australia

15. Department of Pediatrics University of California Irvine Orange California USA

Funder

National Heart, Lung, and Blood Institute

National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61936

Reference37 articles.

1. Medical nutrition therapy in patients with HIBCH and ECHS1 defects: Clinical and biochemical response to low valine diet