Recurrent myoglobinuria due to carnitine palmitoyltransferase II deficiency : clinical, biochemical, and genetic features of adult-onset cases

Creates awareness of adult-onset carnitine palmitoyltransferase II (CPT II) deficiency by describing the clinical, biochemical, and genetic features of three NZ patients with this disorder. Reviews case notes, creatine kinase (CK) values, CPT II assay results, genetic mutation analyses, and the lite...

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Veröffentlicht in:	New Zealand medical journal 2005-02, Vol.118 (1210), p.7p
1. Verfasser:	Kilfoyle, Dean
Format:	Artikel
Sprache:	eng
Schlagworte:	Chemistry Family medical history Genes Genetics Infections Mitochondrial DNA Musculoskeletal system Mutation Neurology Physiology Proteins Soccer
Online-Zugang:	Volltext
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