| 1 | CPT2, CPT2I
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| Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency.
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| Isackson PJ, Bennett MJ, Vladutiu GD.
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| Mol Genet Metab 89(4):323-31. Epub 2006 Sep 22. 2006
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| 2 | CPT2, CPT2I
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| Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations.
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| Vladutiu GD, Quackenbush EJ, Hainline BE, Albers S, Smail DS, Bennett MJ.
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| J Pediatr 141(5):734-6. 2002
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| 3 | CPT2, CPT2I
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| Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies.
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| Demaugre F, Bonnefont JP, Colonna M, Cepanec C, Leroux JP, Saudubray JM.
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| J Clin Invest 87(3):859-64. 1991
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