Diego Martinelli
Werke:
- The hyperornithinemia–hyperammonemia-homocitrullinuria syndrome
- Ethylmalonic encephalopathy and liver transplantation: long-term outcome of the first treated patient
- Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression
- Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia