Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supp...
Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supplementation
About this item
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Author / Creator
Publisher
Hoboken, USA: John Wiley & Sons, Inc
Journal title
Language
English
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Publication information
Publisher
Hoboken, USA: John Wiley & Sons, Inc
Subjects
More information
Scope and Contents
Contents
Primary carnitine deficiency (PCD) is an inherited disease of fatty acid beta‐oxidation with autosomal recessive inheritance. The disease manifests as metabolic decompensation with hypoketotic hypoglycaemia associated with cardiomyopathy, hepatomegaly, rhabdomyolysis, and seizures. Various outcomes are described from asymptomatic adults to dramatic...
Alternative Titles
Full title
Infantile primary carnitine deficiency: A severe cardiac presentation unresponsive to carnitine supplementation
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_bedaffeb7ce740ec935489646cc03abd
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_bedaffeb7ce740ec935489646cc03abd
Other Identifiers
ISSN
2192-8312,2192-8304
E-ISSN
2192-8312
DOI
10.1002/jmd2.12346
