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Development and validation of a carnitine cycle and transport disorders (CCD) panel: an ONT-compatible multi-gene diagnostic kit for newborn and selective screening

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Authors: Gökçe Akan, Mehmet Cihan Balcı, Gülten Tuncel, Meryem Karaca, Hasan Hüseyin Kazan, Ahmet Çağlar Özketen, Özge Özgen, Gülden Fatma Gökçay, Fatmahan Atalar
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  • Published on: May 26 2025
  • Source: Orphanet Journal of Rare Diseases

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