Associated Papers
The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelines.
Alston CL et al.
The Journal of Pathology, 2021
Disorders of riboflavin metabolism.
Balasubramaniam S et al.
Journal of Inherited Metabolic Disease, 2019
Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy.
Yıldız Y et al.
Neuromuscular Disorders : Nmd, 2018
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Olsen RKJ et al.
American Journal of Human Genetics, 2016
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
Taylor RW et al.
Jama, 2014
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