Birgit Assmann

Latest

• The continuously evolving phenotype of succinicsemialdehyde dehydrogenase deficiency
• 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
• Inherited Disorders of Neurotransmitters: Classification and Practical Approaches for Diagnosis and Treatment