Publication: Pericardial effusion in primary systemic carnitine deficiency.
Issued Date
2006-01-01
Resource Type
ISSN
15732665
Other identifier(s)
2-s2.0-79959329233
Rights
Mahidol University
Rights Holder(s)
SCOPUS
Bibliographic Citation
Journal of inherited metabolic disease. Vol.29, No.4 (2006), 589
Suggested Citation
Duangrurdee Wattanasirichaigoon, Pongsak Khowsathit, Anannit Visudtibhan, Umaporn Suthutvoravut, Dussadee Charoenpipop, Sook Z. Kim, Harvey L. Levy, Vivian E. Shih Pericardial effusion in primary systemic carnitine deficiency.. Journal of inherited metabolic disease. Vol.29, No.4 (2006), 589. doi:10.1007/s10545-006-0335-7 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/23107
Research Projects
Organizational Units
Authors
Journal Issue
Thesis
Title
Pericardial effusion in primary systemic carnitine deficiency.
Other Contributor(s)
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.