Associated Papers
Recurrent rhabdomyolysis caused by palmitoyltransferase II (CPT-2) deficiency but complete normal acylcarnitine profile: A patient presentation and review of the literature.
Lu CH et al.
Molecular Genetics and Metabolism Reports, 2024
A case study of lethal neonatal CPT II deficiency: Novel insights from genetic analysis.
Tran TCM et al.
Molecular Genetics and Metabolism Reports, 2024
Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development.
Shelihan I et al.
Jimd Reports, 2022
35028265 (PubMed )
Supplement: JMD2-63-3-s001.pdf
Diagnostic pitfall in antenatal manifestations of CPT II deficiency.
Boemer F et al.
Clinical Genetics, 2016
CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.
Isackson PJ et al.
Molecular Genetics and Metabolism, 2008
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