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|Title:||Pericardial effusion in primary systemic carnitine deficiency.|
Sook Z. Kim
Harvey L. Levy
Vivian E. Shih
|Keywords:||Biochemistry, Genetics and Molecular Biology;Medicine|
|Citation:||Journal of inherited metabolic disease. Vol.29, No.4 (2006), 589|
|Abstract:||A patient with pericardial effusion and a complicated presentation of primary systemic carnitine deficiency (PSCD) is described. This is the first case of PSCD reported to have pericardial effusion. Compound heterozygosity for two mutations in the SLC22A5 gene, T440M and F23del, and four SLC22A5 polymorphisms (c.IVS3+6A>G, c.-77G>A, c.-78C>T, and p.S95S) were identified in the patient.|
|Appears in Collections:||Scopus 2006-2010|
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