Clinical spectrum in multiple families with primary COQ 10 deficiency-Reference-Cited by-同舟云学术

Clinical spectrum in multiple families with primary COQ 10 deficiency

Published:2020-11-20 Issue:2 Volume:185 Page:440-452
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Hashemi Seyyed S.¹,Zare‐Abdollahi Davood¹,Bakhshandeh Mohammad K.²,Vafaee Amirreza³,Abolhasani Sona⁴,Inanloo Rahatloo Kolsoum⁵,DanaeeFard Fardad¹,Farboodi Niloofar⁶,Rohani Mohammad⁷,Alavi Afagh¹^ORCID

Affiliation:

1. Genetics Research Center, University of Social Welfare and Rehabilitation Sciences Tehran Iran

2. Department of Pediatrics, Faculty of Medicine Tehran Medical Sciences, Islamic Azad University Tehran Iran

3. Department of Orthopedics Tehran University of Medical Sciences Tehran Iran

4. Department of Neurology Tabriz University of Medical Sciences Tabriz Iran

5. School of Biology, College of Science, University of Tehran Tehran Iran

6. UCLA School of Public Health Los Angeles California USA

7. Department of Neurology Hazrat Rasool Hospital, Iran University of Medical Sciences Tehran Iran

Funder

National Institute for Medical Research Development

University of Social Welfare and Rehabilitation Sciences

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61983

Reference53 articles.

1. Coenzyme Q biosynthesis in health and disease

2. Identification of mutation in NPC2 by exome sequencing results in diagnosis of Niemann–Pick disease type C

3. Clinical syndromes associated with Coenzyme Q10 deficiency

4. ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

5. Exome sequencing as a tool for Mendelian disease gene discovery

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