Sabine Jung-Klawitter

Latest

• The continuously evolving phenotype of succinicsemialdehyde dehydrogenase deficiency
• Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1
• Succinic Semialdehyde Dehydrogenase Deficiency: An Update
• Induced pluripotent stem cells (iPSCs) and iPSC-derived cerebral organoids as a tool to model Succinic Semialdehyde Dehydrogenase Deficiency
• The use of patient-derived induced pluripotent stem cells (iPSCs) and iPSC-derived cerebral organoids to explore pathomechanisms of succinc semialdehyde dehydrogenase deficiency
• Inherited Disorders of Neurotransmitters: Classification and Practical Approaches for Diagnosis and Treatment