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. 31P-magnetic resonance spectroscopy provided characteristic spectra of type VII glycogen storage disease (phosphofructokinase deficiency).
References
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Exantus, J., Ranchin, B., Dubourg, L. et al. Acute renal failure in a patient with phosphofructokinase deficiency. Pediatr Nephrol 19, 111–113 (2004). https://doi.org/10.1007/s00467-003-1321-z
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DOI: https://doi.org/10.1007/s00467-003-1321-z