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Case Reports
. 1983 Jul 8;108(27):1058-61.
doi: 10.1055/s-2008-1069692.

[Muscular carnitine-palmityl-transferase deficiency]

[Article in German]
K W Rumpf, H Kaiser, H H Goebel, H A Wagner, B Ullmann, S DiMauro, F Scheler
Case Reports

[Muscular carnitine-palmityl-transferase deficiency]

[Article in German]
K W Rumpf et al. Dtsch Med Wochenschr. .

Abstract

Deficiency in carnitine-palmityl-transferase (CPT) was demonstrated in a 20-year-old man with paroxysmal myoglobinuria, after failure to discover another cause. It is concluded that muscular CPT deficiency must be excluded before a recurrent myoglobinuria is classified as "idiopathic".

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