Citations for
1CACT, SLC25A20
Prospective treatment in carnitine-acylcarnitine translocase deficiency.
Pierre G, Macdonald A, Gray G, Hendriksz C, Preece MA, Chakrapani A.
J Inherit Metab Dis 30(5):815. Epub 2007 May 12.PMID: 17508264 2007
2CACT, SLC25A20
Carnitine-acylcarnitine translocase deficiency in three neonates presenting with rapid deterioration and cardiac arrest.
Lee RS, Lam CW, Lai CK, Yuen YP, Chan KY, Shek CC, Chan AY, Chow CB.
Hong Kong Med J 13(1):66-8.PMID: 17277394 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
4SLC25A20, CACT
A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency.
Korman SH, Pitt JJ, Boneh A, Dweikat I, Zater M, Meiner V, Gutman A, Brivet M.
Mol Genet Metab 89(4):332-8. Epub 2006 Aug 17. 2006
5SLC25A20, CACT
Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.
Iacobazzi V, Invernizzi F, Baratta S, Pons R, Chung W, Garavaglia B, Dionisi-Vici C, Ribes A, Parini R, Huertas MD, Roldan S, Lauria G, Palmieri F, Taroni F.
Hum Mutat 24(4):312-20. 2004