| 1 | CPT2
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| Mutations of carnitine palmitoyltransferase II (CPT II) in Japanese patients with CPT II deficiency.
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| Yasuno T, Kaneoka H, Tokuyasu T, Aoki J, Yoshida S, Takayanagi M, Ohtake A, Kanazawa M, Ogawa A, Tojo K, Saito T.
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| Clin Genet 73(5):496-501. Epub 2007 Mar 19. 2008
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| 2 | CPT2
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| Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency.
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| Musumeci O, Aguennouz M, Comi GP, Rodolico C, Autunno M, Bordoni A, Baratta S, Taroni F, Vita G, Toscano A.
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| Neuromuscul Disord 17(11-12):960-3. Epub 2007 Jul 24.PMID: 17651973 2007
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| 3 | CPT1A, CDSP, SLC22A5, SLC25A20, CACT, CPT2
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| Disorders of carnitine transport and the carnitine cycle.
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| Longo N, Amat di San Filippo C, Pasquali M.
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| Am J Med Genet C Semin Med Genet 142(2):77-85. Review. 2006
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| 4 | 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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| 5 | CPT2
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| Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.
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| Thuillier L, Rostane H, Droin V, Demaugre F, Brivet M, Kadhom N, Prip-Buus C, Gobin S, Saudubray JM, Bonnefont JP.
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| Hum Mutat 21(5):493-501. 2003
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| 6 | 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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| 7 | BAZ1B, CPT1A, CPT1B, CPT1C, CPT2, CROT
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| Genomics of the human carnitine acyltransferase genes.
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| van der Leij FR, Huijkman NC, Boomsma C, Kuipers JR, Bartelds B.
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| Mol Genet Metab 71(1-2):139-53. 2000
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| 8 | CPT2
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| Novel mutation in the CPT II gene in a child with periodic febrile myalgia and myoglobinuria.
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| Bruno C, Bado M, Minetti C, Cordone G, DiMauro S.
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| J Child Neurol 15(6):390-3. 2000
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| 9 | CPT2
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| Novel mutations associated with carnitine palmitoyltransferase II deficiency.
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| Taggart RT, et al.
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| Hum Mutat 13(3):210-20. 1999
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| 10 | CPT1A, CPT1B, CPT2
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| Carnitine palmitoyltransferase deficiencies.
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| Bonnefont JP, Demaugre F, Prip-Buus C, Saudubray JM, Brivet M, Abadi N, Thuillier L.
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| Mol Genet Metab 68(4):424-40 1999
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| 11 | CPT2
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| Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency : functional analysis and association with polymorphic haplotypes and two clinical phenotypes.
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| Wataya K, et al.
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| Hum Mutat 11 : 377-386. 1998
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| 12 | CPT2
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| A novel mutations identified in carnitine palmitoyltransferase II deficiency.
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| Yang BZ, et al.
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| Mol Genet Metab 63 : 110-115. 1998
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| 13 | CPT2
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| Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency.
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| Yang BZ, et al.
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| Mol Genet Metab 64 : 229-236. 1998
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| 14 | CPT1A, CPT1B, CPT2
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| Fine chromosome mapping of the genes for human liver and muscle carnitine palmitoyltransferase I (CPT1A and CPT1B).
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| Britton CH, et al.
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| Genomics 40 : 209-211. 1997
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| 15 | CPT1A, CPT2
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| Structural features of the gene encoding human muscle type carnitine palmitoyltransferase I.
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| Yamazaki N, Yamanaka Y, Hashimoto Y, Shinohara Y, Shima A, Terada H.
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| FEBS Lett 409(3):401-6. 1997
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| 16 | CPT2
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| Inheritance of the S113L mutation within an inbred family with carnitinepalmitoyltransferase enzyme deficiency.
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| Handig I, et al.
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| Hum Genet 97 : 291-293. 1996
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| 17 | CPT2
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| Lethal carnitine palmitoyltransferase (CPT) II deficiency in newborns : a molecular genetic study. (abstr)
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| Taroni F, et al.
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| Am J Hum Genet 55 : A245. 1994
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| 18 | CPT2
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| Assignment of the human carnitine palmitoyltransferase II gene (CPT1) to chromosome 1p32.
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| Gellera C, et al.
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| Genomics 24 : 195-197. 1994
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| 19 | CPT2
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| Two novel sequence polymorphisms of the human carnitine palmitoyltransferase II (CPT1) gene.
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| Verderio E, et al.
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| Hum Mol Genet 2 : 334. 1993
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| 20 | CPT2
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| Identification of a common mutation in the carnithine palmitoyltransferase II gene in familial recurrent myoglobinuria patients.
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| Taroni F, et al.
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| Nat Genet 4 : 314-319. 1993
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| 21 | CPT2
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| Localization of the human gene for carnitine palmitoyltransferase to 1p13-p11 by nonradioactive in situ hybridization.
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| Minoletti F, et al.
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| Genomics 13 : 1372-1374. 1992
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| 22 | CPT2
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| cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase.
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| Finocchiaro G, et al.
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| Proc Natl Acad Sci U S A 88 : 661-665. 1991
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| 23 | 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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| 24 | CPT2
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| Muscle carnitine palmityltransferase deficiency and myoglobinuria.
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| Di Mauro S, et al.
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| Science 182 : 924-931. 1973
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