caa a22 4500 467933359 CHVBK 20180406152949.0 cr unu---uuuuu 170328e20060801xx s 000 0 eng 10.1007/s10545-006-0335-7 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0335-7 Pericardial effusion in primary systemic carnitine deficiency [Elektronische Daten] [Duangrurdee Wattanasirichaigoon, Pongsak Khowsathit, Anannit Visudtibhan, Umaporn Suthutvoravut, Dussadee Charoenpipop, Sook Kim, Harvey Levy, Vivian Shih] Summary: 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. SSIEM and Springer, 2006 Wattanasirichaigoon Duangrurdee Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand aut Khowsathit Pongsak Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand aut Visudtibhan Anannit Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand aut Suthutvoravut Umaporn Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand aut Charoenpipop Dussadee Research Center, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand aut Kim Sook Korea Genetic Research Center, Cheong Ju City, Chung Buk, Republic of Korea aut Levy Harvey Children's Hospital Boston, Boston, Massachusetts, USA aut Shih Vivian Massachusetts General Hospital, Boston, Massachusetts, USA aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/4(2006-08-01), 589-589 0141-8955 29:4<589 2006 29 10545 https://doi.org/10.1007/s10545-006-0335-7 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0335-7 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Wattanasirichaigoon Duangrurdee Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand aut NATIONALLICENCE 700 1- Khowsathit Pongsak Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand aut NATIONALLICENCE 700 1- Visudtibhan Anannit Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand aut NATIONALLICENCE 700 1- Suthutvoravut Umaporn Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand aut NATIONALLICENCE 700 1- Charoenpipop Dussadee Research Center, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand aut NATIONALLICENCE 700 1- Kim Sook Korea Genetic Research Center, Cheong Ju City, Chung Buk, Republic of Korea aut NATIONALLICENCE 700 1- Levy Harvey Children's Hospital Boston, Boston, Massachusetts, USA aut NATIONALLICENCE 700 1- Shih Vivian Massachusetts General Hospital, Boston, Massachusetts, USA aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/4(2006-08-01), 589-589 0141-8955 29:4<589 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer