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