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Author

Nihal Coşkun

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Aug 2026

Longitudinal biochemical profiles in beta-ketothiolase deficiency: Phase-dependent diagnostic challenges and metabolic variability.

BACKGROUND Beta-ketothiolase deficiency (BKTD) is a rare autosomal recessive metabolic disorder affecting isoleucine catabolism and ketone body utilization, demonstrating marked clinical and biochemical heterogeneity. This study aims to characterize the longitudinal clinical, biochemical, and genetic features of a sing...

Nurcan Ucuncu Ergun, Nihal Coşkun, M. Aslantaş et al. · 0 citations

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