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11. Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation. Iacobazzi V; Pasquali M; Singh R; Matern D; Rinaldo P; Amat di San Filippo C; Palmieri F; Longo N Am J Med Genet A; 2004 Apr; 126A(2):150-5. PubMed ID: 15057979 [TBL] [Abstract][Full Text] [Related]
13. Identification of two novel mutations of the carnitine/acylcarnitine translocase (CACT) gene in a patient with CACT deficiency. Ogawa A; Yamamoto S; Kanazawa M; Takayanagi M; Hasegawa S; Kohno Y J Hum Genet; 2000; 45(1):52-5. PubMed ID: 10697964 [TBL] [Abstract][Full Text] [Related]
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