Associated Papers
Development and validation of a carnitine cycle and transport disorders (CCD) panel: an ONT-compatible multi-gene diagnostic kit for newborn and selective screening.
Akan G et al.
Orphanet Journal of Rare Diseases, 2025
The evaluation of inherited metabolic diseases presenting with rhabdomyolysis from Turkey: Single center experience.
Bilgin H et al.
Molecular Genetics and Metabolism Reports, 2024
Cause of recurrent rhabdomyolysis, carnitine palmitoyltransferase II deficiency and novel pathogenic mutation.
Çakar NE et al.
Ideggyogyaszati Szemle, 2021
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