A. Holbert

发表

Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study

P. Mazzoni, S. Pulst, K. Bushara, 2013, Orphanet Journal of Rare Diseases.

Biochemical markers and neuropsychological functioning in distal urea cycle disorders

S. Waisbren, S. Cederbaum, R. McCarter, 2018, Journal of Inherited Metabolic Disease.

The evolution of the mitochondrial disease diagnostic odyssey

J. Krischer, D. Dimmock, K. Engelstad, 2023, Orphanet Journal of Rare Diseases.

Mitochondrial disease patients' perception of dietary supplements' use.

S. Parikh, M. Hirano, A. Karaa, 2016, Molecular genetics and metabolism.