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Sponsored AI AM CLAUDE, A Beginner's Guide: Learn the basics of working with AI AI AM CLAUDE, A Beginner's Guide: Learn the basics of working with AI

Author

S. K. Uçar

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2 papers indexed here

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Open access Oct 2026

Aromatic amino acid decarboxylase - exploring the structural and functional role of its N-terminal domain using deficiency-associated variants.

Three amino-terminal variants identified in hypoglycemic patients underlie the molecular basis for the clinical variability of AADC deficiency, providing a molecular basis for the clinical variability of AADC deficiency.

Giovanni Bisello, S. K. Uçar, Ayse Yuksel Yanbolu et al. · 0 citations
Open access Sep 2026

Alpha-Mannosidosis: Quantitative Oligosaccharide Biomarker Analysis in Dried Blood Spots for Diagnosis, Newborn Screening, and Treatment Monitoring

Man2GlcNAc has the potential to serve as a useful biomarker for newborn screening offering the prospect of earlier treatment initiation, improved therapeutic outcome and higher quality of life for AM patients.

D. Badekow, M. Jeschik, B. Dreyer et al. · 0 citations

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