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Diagnostic difficulties in a case of primary systemic carnitine deficiency with idiopathic dilated cardiomyopathy

Kinali, M; Olpin, SE; Clayton, PT; Daubeney, PEF; Mercuri, E; Manzur, AY; Tein, I; ... Muntoni, F; + view all (2004) Diagnostic difficulties in a case of primary systemic carnitine deficiency with idiopathic dilated cardiomyopathy. EUR J PAEDIATR NEURO , 8 (4) 217 - 219. 10.1016/j.ejpn.2004.03.007.

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Abstract

Blood spot carnitine profiles are widely used to screen for disorders of fatty acid oxidation. This case report emphasizes that a borderline concentration of free carnitine does not exclude the diagnosis of primary carnitine deficiency. Concurrent measurement of carnitine in the plasma and urine is a more sensitive test. (C) 2004 European Paediatric Neurology Society. Published by Elsevier Ltd. AIL rights reserved.

Type: Article
Title: Diagnostic difficulties in a case of primary systemic carnitine deficiency with idiopathic dilated cardiomyopathy
DOI: 10.1016/j.ejpn.2004.03.007
Keywords: carnitine, cardiomyopathy, fatty acid oxidation, PHENOTYPE, MUTATIONS, OCTN2
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Developmental Neurosciences Prog
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Genetics and Genomic Medicine Prog
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Infect, Imm, Infla. and Physio Med
URI: http://discovery.ucl.ac.uk/id/eprint/65709
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