Pericardial effusion in primary systemic carnitine deficiency.

Duangrurdee Wattanasirichaigoon; Pongsak Khowsathit; Anannit Visudtibhan; Umaporn Suthutvoravut; Dussadee Charoenpipop; Sook Z. Kim; Harvey L. Levy; Vivian E. Shih

doi:10.1007/s10545-006-0335-7

Pericardial effusion in primary systemic carnitine deficiency.

Duangrurdee Wattanasirichaigoon
, Pongsak Khowsathit
, Anannit Visudtibhan
, Umaporn Suthutvoravut
, Dussadee Charoenpipop
, Sook Z. Kim
, Harvey L. Levy
, Vivian E. Shih

Department of Pediatrics

Research output: Contribution to journal › Article › peer-review

3 Citations (Scopus)

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.

Original language	English
Pages (from-to)	589
Number of pages	1
Journal	Journal of Inherited Metabolic Disease
Volume	29
Issue number	4
DOIs	https://doi.org/10.1007/s10545-006-0335-7
Publication status	Published - Aug 2006

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title = "Pericardial effusion in primary systemic carnitine deficiency.",

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.",

author = "Duangrurdee Wattanasirichaigoon and Pongsak Khowsathit and Anannit Visudtibhan and Umaporn Suthutvoravut and Dussadee Charoenpipop and Kim, \{Sook Z.\} and Levy, \{Harvey L.\} and Shih, \{Vivian E.\}",

year = "2006",

month = aug,

doi = "10.1007/s10545-006-0335-7",

language = "English",

volume = "29",

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journal = "Journal of Inherited Metabolic Disease",

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TY - JOUR

T1 - Pericardial effusion in primary systemic carnitine deficiency.

AU - Wattanasirichaigoon, Duangrurdee

AU - Khowsathit, Pongsak

AU - Visudtibhan, Anannit

AU - Suthutvoravut, Umaporn

AU - Charoenpipop, Dussadee

AU - Kim, Sook Z.

AU - Levy, Harvey L.

AU - Shih, Vivian E.

PY - 2006/8

Y1 - 2006/8

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/79959329233

U2 - 10.1007/s10545-006-0335-7

DO - 10.1007/s10545-006-0335-7

M3 - Article

C2 - 16830263

AN - SCOPUS:79959329233

SN - 0141-8955

VL - 29

SP - 589

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

IS - 4

ER -

Pericardial effusion in primary systemic carnitine deficiency.

Abstract

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