Georg F Hoffmann

Latest

• Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder
• Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients
• Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency
• Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduria
• Empfehlungen zur intrazerebralen Gentherapie des Aromatischen L-Aminosäure- Decarboxylase-Mangels mit Eladocagene exuparvovec (Upstaza®)
• Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1