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Nihal Coşkun

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Aug 2026

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

BKTD exhibits significant phase-dependent metabolic variability driven by catabolic stress, and multi-marker evaluation is essential, as single-time-point biochemical assessments during stable remission carry a distinct risk of false-negative results.

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

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