Roser Pons

Latest

• The continuously evolving phenotype of succinicsemialdehyde dehydrogenase deficiency
• Gene therapy for aromatic L-amino acid decarboxylase deficiency: requirements for safe application and knowledge-generating follow-up
• Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: data from the iNTD registry