Article
Carnitine-acylcarnitine translocase deficiency in three neonates presenting with rapid deterioration and cardiac arrest.
Hong Kong medical journal = Xianggang yi xue za zhi - 1 Feb 2007
Lee Robert S Y, Lam C W, Lai C K, Yuen Y P, Chan K Y, Shek C C, Chan Albert Y W, Chow C B
Abstract excerpt
We report on three Chinese neonates with carnitine-acylcarnitine translocase deficiency. They presented within the first 48 hours of life. Two neonates were found in cardiac arrest; one of them survived after resuscitation. The third neonate suddenly developed cardiorespiratory insufficiency and succumbed eventually. The clustering of three cases in 5 years suggests that carnitine-acylcarnitine translocase...
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