Browsing Duke Faculty Scholarship by Subject "fatty-acid oxidation"

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A novel mutation of the ACADM gene (c.145C > G) associated with the common c.985A > G mutation on the other ACADM allele causes mild MCAD deficiency: a case report

Millington, David (BIOMED CENTRAL LTD, 2010)

A female patient, with normal familial history, developed at the age of 30 months an episode of diarrhoea, vomiting and lethargy which resolved spontaneously. At the age of 3 years, the patient re-iterated vomiting, was ...