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Case Reports
. 2004 Jan;19(1):111-3.
doi: 10.1007/s00467-003-1321-z. Epub 2003 Nov 22.

Acute renal failure in a patient with phosphofructokinase deficiency

J Exantus  1 , B Ranchin, L Dubourg, R Touraine, G Baverel, P Cochat
Affiliations
Case Reports

Acute renal failure in a patient with phosphofructokinase deficiency

J Exantus et al. Pediatr Nephrol. 2004 Jan.

Abstract

A 16-year-old Caucasian girl was admitted to hospital with acute renal failure and hemolytic anemia due to rhabdomyolysis following a 3-km walk. (31)P-magnetic resonance spectroscopy provided characteristic spectra of type VII glycogen storage disease (phosphofructokinase deficiency).

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