Recurrent rhabdomyolysis and acute respiratory failure due to carnitine palmityltransferase deficiency.
Smolle
K H
KH
Kaufmann
P
P
Gasser
R
R
D000208:Acute Disease; D000328:Adult; D002334:Carnitine O-Palmitoyltransferase / Q000172:deficiency*; D006801:Humans; D008297:Male; D012008:Recurrence; D012131:Respiratory Insufficiency / Q000209:etiology*; D012206:Rhabdomyolysis / Q000209:etiology*
D002334:Carnitine O-Palmitoyltransferase