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986 results on '"Wanders, Ronald J.A."'

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6. Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography

9. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

13. Extending diagnostic practices in gyrate atrophy:Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay

15. Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy

19. List of Contributors

24. The malate-aspartate shuttle is important for de novo serine biosynthesis

30. Contributors

32. Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

39. Metabolic rerouting via SCD1 induction impacts X-linked adrenoleukodystrophy

45. Peroxisomal Disorders

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