Genetic Conditions > carnitine-acylcarnitine translocase deficiency >

References

These sources were used to develop the Genetics Home Reference condition summary on carnitine-acylcarnitine translocase deficiency.

Costa C, Costa JM, Slama A, Boutron A, Vequaud C, Legrand A, Brivet M. Mutational spectrum and DNA-based prenatal diagnosis in carnitine-acylcarnitine translocase deficiency. Mol Genet Metab. 2003 Jan;78(1):68-73. PubMed citation
Geven WB, Niezen-Koning KE, Timmer A, van Loon AJ, Wanders RJ, van Spronsen FJ. Pre-eclampsia in a woman whose child suffered from lethal carnitine-acylcarnitine translocase deficiency. BJOG. 2007 Aug;114(8):1028-30. Epub 2007 Jun 18. PubMed citation
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. Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency. Hum Mutat. 2004 Oct;24(4):312-20. PubMed citation
Korman SH, Pitt JJ, Boneh A, Dweikat I, Zater M, Meiner V, Gutman A, Brivet M. A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency. Mol Genet Metab. 2006 Dec;89(4):332-8. Epub 2006 Aug 17. PubMed citation
Longo N, Amat di San Filippo C, Pasquali M. Disorders of carnitine transport and the carnitine cycle. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):77-85. Review. PubMed citation
Lopriore E, Gemke RJ, Verhoeven NM, Jakobs C, Wanders RJ, Roeleveld-Versteeg AB, Poll-The BT. Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcome. Eur J Pediatr. 2001 Feb;160(2):101-4. Review. PubMed citation
Rubio-Gozalbo ME, Bakker JA, Waterham HR, Wanders RJ. Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects. Mol Aspects Med. 2004 Oct-Dec;25(5-6):521-32. Review. PubMed citation
Rubio-Gozalbo ME, Vos P, Forget PP, Van Der Meer SB, Wanders RJ, Waterham HR, Bakker JA. Carnitine-acylcarnitine translocase deficiency: case report and review of the literature. Acta Paediatr. 2003 Apr;92(4):501-4. Review. PubMed citation
Wilcken B. Fatty acid oxidation disorders: outcome and long-term prognosis. J Inherit Metab Dis. 2010 Oct;33(5):501-6. Epub 2010 Jan 5. Review. PubMed citation


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