Citations for
1CPT2
Mutations of carnitine palmitoyltransferase II (CPT II) in Japanese patients with CPT II deficiency.
Yasuno T, Kaneoka H, Tokuyasu T, Aoki J, Yoshida S, Takayanagi M, Ohtake A, Kanazawa M, Ogawa A, Tojo K, Saito T.
Clin Genet 73(5):496-501. Epub 2007 Mar 19. 2008
2CPT2
Identification of the infant-type R631C mutation in patients with the benign muscular form of CPT2 deficiency.
Musumeci O, Aguennouz M, Comi GP, Rodolico C, Autunno M, Bordoni A, Baratta S, Taroni F, Vita G, Toscano A.
Neuromuscul Disord 17(11-12):960-3. Epub 2007 Jul 24.PMID: 17651973 2007
3CPT1A, CDSP, SLC22A5, SLC25A20, CACT, CPT2
Disorders of carnitine transport and the carnitine cycle.
Longo N, Amat di San Filippo C, Pasquali M.
Am J Med Genet C Semin Med Genet 142(2):77-85. Review. 2006
4CPT2, CPT2I
Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency.
Isackson PJ, Bennett MJ, Vladutiu GD.
Mol Genet Metab 89(4):323-31. Epub 2006 Sep 22. 2006
5CPT2
Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.
Thuillier L, Rostane H, Droin V, Demaugre F, Brivet M, Kadhom N, Prip-Buus C, Gobin S, Saudubray JM, Bonnefont JP.
Hum Mutat 21(5):493-501. 2003
6CPT2, CPT2I
Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations.
Vladutiu GD, Quackenbush EJ, Hainline BE, Albers S, Smail DS, Bennett MJ.
J Pediatr 141(5):734-6. 2002
7BAZ1B, CPT1A, CPT1B, CPT1C, CPT2, CROT
Genomics of the human carnitine acyltransferase genes.
van der Leij FR, Huijkman NC, Boomsma C, Kuipers JR, Bartelds B.
Mol Genet Metab 71(1-2):139-53. 2000
8CPT2
Novel mutation in the CPT II gene in a child with periodic febrile myalgia and myoglobinuria.
Bruno C, Bado M, Minetti C, Cordone G, DiMauro S.
J Child Neurol 15(6):390-3. 2000
9CPT2
Novel mutations associated with carnitine palmitoyltransferase II deficiency.
Taggart RT, et al.
Hum Mutat 13(3):210-20. 1999
10CPT1A, CPT1B, CPT2
Carnitine palmitoyltransferase deficiencies.
Bonnefont JP, Demaugre F, Prip-Buus C, Saudubray JM, Brivet M, Abadi N, Thuillier L.
Mol Genet Metab 68(4):424-40 1999
11CPT2
Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency : functional analysis and association with polymorphic haplotypes and two clinical phenotypes.
Wataya K, et al.
Hum Mutat 11 : 377-386. 1998
12CPT2
A novel mutations identified in carnitine palmitoyltransferase II deficiency.
Yang BZ, et al.
Mol Genet Metab 63 : 110-115. 1998
13CPT2
Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency.
Yang BZ, et al.
Mol Genet Metab 64 : 229-236. 1998
14CPT1A, CPT1B, CPT2
Fine chromosome mapping of the genes for human liver and muscle carnitine palmitoyltransferase I (CPT1A and CPT1B).
Britton CH, et al.
Genomics 40 : 209-211. 1997
15CPT1A, CPT2
Structural features of the gene encoding human muscle type carnitine palmitoyltransferase I.
Yamazaki N, Yamanaka Y, Hashimoto Y, Shinohara Y, Shima A, Terada H.
FEBS Lett 409(3):401-6. 1997
16CPT2
Inheritance of the S113L mutation within an inbred family with carnitinepalmitoyltransferase enzyme deficiency.
Handig I, et al.
Hum Genet 97 : 291-293. 1996
17CPT2
Lethal carnitine palmitoyltransferase (CPT) II deficiency in newborns : a molecular genetic study. (abstr)
Taroni F, et al.
Am J Hum Genet 55 : A245. 1994
18CPT2
Assignment of the human carnitine palmitoyltransferase II gene (CPT1) to chromosome 1p32.
Gellera C, et al.
Genomics 24 : 195-197. 1994
19CPT2
Two novel sequence polymorphisms of the human carnitine palmitoyltransferase II (CPT1) gene.
Verderio E, et al.
Hum Mol Genet 2 : 334. 1993
20CPT2
Identification of a common mutation in the carnithine palmitoyltransferase II gene in familial recurrent myoglobinuria patients.
Taroni F, et al.
Nat Genet 4 : 314-319. 1993
21CPT2
Localization of the human gene for carnitine palmitoyltransferase to 1p13-p11 by nonradioactive in situ hybridization.
Minoletti F, et al.
Genomics 13 : 1372-1374. 1992
22CPT2
cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase.
Finocchiaro G, et al.
Proc Natl Acad Sci U S A 88 : 661-665. 1991
23CPT2, CPT2I
Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies.
Demaugre F, Bonnefont JP, Colonna M, Cepanec C, Leroux JP, Saudubray JM.
J Clin Invest 87(3):859-64. 1991
24CPT2
Muscle carnitine palmityltransferase deficiency and myoglobinuria.
Di Mauro S, et al.
Science 182 : 924-931. 1973