A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C‐methyltransferase deficiency

Document Details

Document Type
Pub Defense Publication
Publication Date
Nov 08, 2017
Source ID
10.1002/humu.23345

Entities

People

  • Amir Dori
  • Aviva Eliyahu
  • Ben Pode‐shakked
  • Bruria Ben‐zeev
  • Camilo Toro
  • Carlos R. Ferreira
  • Dina Marek‐yagel
  • Douglas C Wallace
  • Hadass Pri‐chen
  • Ilan Blatt
  • Jennifer Guo
  • John Deeken
  • John E. Niederhuber
  • Langping He
  • May Christine V Malicdan
  • Natalia Shelestovich
  • Robert W. Taylor
  • Settara C Chandrasekharappa
  • Sravan Kakani
  • Tal Yardeni
  • Thierry Vilboux
  • William A. Gahl
  • Yair Anikster

Organizations

  • Children's Hospital of Philadelphia
  • Johns Hopkins University
  • Medical Research Council
  • National Human Genome Research Institute
  • National Institutes of Health
  • Newcastle University
  • Office of the Director
  • Sheba Medical Center
  • Tel Aviv University
  • United States Department of Defense
  • Wellcome Trust