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
40420233 (PubMed )
Supplement: 13023_2025_3775_MOESM1_ESM.docx
Diagnostic Challenges in the Myopathic Variant of Carnitine Palmitoyltransferase II Deficiency: A Case Report.
Alabbasi L et al.
Cureus, 2024
A novel mutation leading to the lethal form of carnitine palmitoyltransferase type-2 deficiency.
Dorum S et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019
[A case report of carnitine palmitoyltransferase II deficiency].
Zhang LX et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2009
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