Inborn errors of metabolism in adults | Dietetics and nutrition |
Disorders of fatty acid oxidation and ketone body metabolism | Glycosylation disorders/CDG, protein modification disorders |
Novel diagnostic/laboratory methods including omics | Phenylketonuria |
Mitochondrial disorders | Neurotransmitter and creatine related disorders |
Innovative therapies such as RNA-based therapy, gene therapy and regenerative medicine | Amino acid disorders |
Disorders of purines, pyrimidines, nucleic acids and porphyrias | Disorders of vitamins, cofactors and trace elements |
Metabolic myopathies | Urea cycle disorders |
Peroxisomal, sterol, bile acid, lipid and lipoprotein metabolism | New Diseases |
Newborn screening | Organic acidurias |
Lysosomal disorders | Clinical studies, patient reported outcome measures, outcome |
Nursing in metabolic disorders | |