Oya Kuseyri Hübschmann

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
• Empfehlungen zur intrazerebralen Gentherapie des Aromatischen L-Aminosäure- Decarboxylase-Mangels mit Eladocagene exuparvovec (Upstaza®)
• Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1