Area of research
Clinical Biochemistry · Biochemistry
Research interest
Research interests include Metabolism and Genetic Disorders, Biochemical Acid Research Studies, Amino Acid Enzymes and Metabolism, and Mitochondrial Function and Pathology.
Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC)
Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity