Area of research
Clinical Biochemistry · Molecular Biology
Research interest
Research interests include Disease, Biology, Annotation, Resource (disambiguation), Computational biology, and Catabolism.
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders
Mitochondrial disease phenotypes of 999 patients in the North American Mitochondrial Disease Consortium (NAMDC) (P1.141)
Clinical and biochemical characterization of four patients with mutations in ECHS1
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