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Cardiomyopathies in children: Mitochondrial and storage disease

Norrish, G; Elliott, PM; (2018) Cardiomyopathies in children: Mitochondrial and storage disease. Progress in Pediatric Cardiology 10.1016/j.ppedcard.2018.08.009. (In press). Green open access

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Abstract

Inborn errors of metabolism are individually rare but account for up to 10% of all childhood cardiomyopathies. This group of diseases is extremely heterogeneous in terms of age of onset, presentation and natural history. This review highlights ‘red flags’ in the presentation, examination or investigations of patients with metabolic storage or mitochondrial disease that can identify particular aetiologies and guide further investigations and management.

Type: Article
Title: Cardiomyopathies in children: Mitochondrial and storage disease
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.ppedcard.2018.08.009
Publisher version: http://doi.org/10.1016/j.ppedcard.2018.08.009
Language: English
Keywords: Cardiomyopathy, Pediatric, Inborn errors of metabolism, Mitochondrial disease
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 > Institute of Cardiovascular Science
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Institute of Cardiovascular Science > Children's Cardiovascular Disease
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Institute of Cardiovascular Science > Clinical Science
URI: https://discovery.ucl.ac.uk/id/eprint/10061097
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