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
Newborn Screening with (C16 + C18:1)/C2 and C14/C3 for Carnitine Palmitoyltransferase II Deficiency throughout Japan Has Revealed C12/C0 as an Index of Higher Sensitivity and Specificity.
Tajima G et al.
International Journal of Neonatal Screening, 2023
37987475 (PubMed )
Supplement: IJNS-09-00062-s001.zip › IJNS2023_TableS1.pdf
Mitochondrial carnitine palmitoyltransferase-II dysfunction: A possible novel mechanism for nonalcoholic fatty liver disease in hepatocarcinogenesis.
Yao M et al.
World Journal of Gastroenterology, 2023
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
Cardiolipin Stabilizes and Increases Catalytic Efficiency of Carnitine Palmitoyltransferase II and Its Variants S113L, P50H, and Y479F.
Meinhardt B et al.
International Journal of Molecular Sciences, 2021
Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach.
Joshi PR et al.
Molecules (basel, Switzerland), 2020
Carnitine palmitoyltransferase II deficiency with a focus on newborn screening.
Tajima G et al.
Journal of Human Genetics, 2019
Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.
Tajima G et al.
Molecular Genetics and Metabolism, 2017
Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disorders.
Yamamoto T et al.
Molecular Genetics and Metabolism Reports, 2015
Acute severe encephalopathy related to human herpesvirus-6 infection in a patient with carnitine palmitoyltransferase 2 deficiency carrying thermolabile variants.
Kobayashi Y et al.
Brain & Development, 2013
Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants.
Mak CM et al.
Journal of Human Genetics, 2011
Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy.
Yao D et al.
Human Mutation, 2008
Mutations of carnitine palmitoyltransferase II (CPT II) in Japanese patients with CPT II deficiency.
Yasuno T et al.
Clinical Genetics, 2008
[Carnitine palmitoyltransferase deficiency in a patient with severe psychomotor retardation].
Suzuki H et al.
No to Hattatsu = Brain and Development, 1991
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