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Title: Pericardial effusion in primary systemic carnitine deficiency.
Authors: Duangrurdee Wattanasirichaigoon
Pongsak Khowsathit
Anannit Visudtibhan
Umaporn Suthutvoravut
Dussadee Charoenpipop
Sook Z. Kim
Harvey L. Levy
Vivian E. Shih
Mahidol University
Keywords: Biochemistry, Genetics and Molecular Biology;Medicine
Issue Date: 1-Jan-2006
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.
ISSN: 15732665
Appears in Collections:Scopus 2006-2010

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