Acute renal failure in a patient with phosphofructokinase deficiency

Autor: Laurence Dubourg, Gabriel Baverel, J. Exantus, P. Cochat, Bruno Ranchin, R. Touraine
Rok vydání: 2004
Předmět:
Zdroj: Pediatric Nephrology. 19:111-113
ISSN: 1432-198X
0931-041X
DOI: 10.1007/s00467-003-1321-z
Popis: 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).
Databáze: OpenAIRE