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Transient carnitine transport defect with cholestatic jaundice: report of one case in a premature baby

Hyun-Seok Cho, Young Kwang Choo, Hong Jin Lee, Hyeon-Soo Lee

Clin Exp Pediatr. 2012;55(2):58-62. Published online February 14, 2012

Carnitine (β-hydroxy-γ-trimethylaminobutyric acid) is involved in the transport of long-chain fatty acids into the mitochondrial matrix and the removal of potentially toxic acylcarnitine esters. Transient carnitine transport defect is a rare condition in newborns reported in 1/90,000 live births. In this paper, we describe a case of transient carnitine transport defect found in a premature baby who had prolonged cholestatic...

DOI: https://doi.org/10.3345/kjp.2012.55.2.58

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