Area of research
Molecular Biology · Clinical Biochemistry
Research interest
Research interests include Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Genetic Neurodegenerative Diseases, and Metabolomics and Mass Spectrometry Studies.
Improvement of lipid and lipoprotein profiles in children and adolescents with cystic fibrosis on CFTR modulator therapy
Effect of fasting status and other pre-analytical variables on quantitation of long-chain fatty acids in red blood cells
Laboratory diagnosis of disorders of peroxisomal biogenesis and function: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Laboratory analysis of amino acids, 2018 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Intra-individual variability of long-chain fatty acids (C12–C24) in plasma and red blood cells
Effect of dietary lysine restriction and arginine supplementation in two patients with pyridoxine-dependent epilepsy
A novel method for simultaneous quantification of alpha-aminoadipic semialdehyde/piperideine-6-carboxylate and pipecolic acid in plasma and urine