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Author

Damjan Osredkar

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Open access Aug 2026

Clinical Variability and Genotype‐Driven Outcomes in CHRND‐Related Congenital Myasthenic Syndrome

Comprehensive genetic testing, longitudinal phenotyping, and genotype‐informed management are essential for optimal diagnosis and care in this rare disorder and underscores the critical role of genotype in determining disease severity.

D. Muhmann, G. Haliloglu, M. A. Grimalt et al. · 0 citations
Open access Jul 2026

Urinary Tryptophan Metabolites, Trace Element Status, and Autism Spectrum Disorder: An Integrated Metabolomics-Elementomics Study in Children.

Ass associations between urinary tryptophan-pathway metabolites and essential/toxic trace elements in children with ASD and healthy controls are investigated, suggesting cofactor-dependent modulation in ASD.

Jusko Osredkar, Kristina Kumer, Maja Jekovec-Vrhovšek et al. · 0 citations

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