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