ISSN:
1432-1076
Schlagwort(e):
Key words VLCAD deficiency
;
β-oxidation
;
Cardiomyopathy
;
Myopathy
;
Myoglobinuria
Quelle:
Springer Online Journal Archives 1860-2000
Thema:
Medizin
Notizen:
Abstract A 5-year-old boy with late-onset very long-chain acyl-CoA-dehydrogenase (VLCAD) deficiency presented with acute cardiomyopathy, myopathy, gross myoglobinuria and normoglycaemia. The clinical course after diagnosis was favourable. Conclusion late-onset VLCAD deficiency may present as acute cardiomyopathy.
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1007/s004310050984
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