Associated Papers
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
CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.
Isackson PJ et al.
Molecular Genetics and Metabolism, 2008
Severe infantile carnitine palmitoyltransferase II deficiency in 19-week fetal sibs.
Meir K et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0
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