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3. Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism

5. Galactokinase deficiency: lessons from the GalNet registry

6. The Genetic Landscape and Epidemiology of Phenylketonuria

7. Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency

9. The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders

12. Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome

13. Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies

14. COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

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