title: Familial phosphoglycerate kinase deficiency associated with rhabdomyolysis and acute renal failure: abnormality in mRNA splicing?
authors.forename: Costel
authors.initials: C
authors.lastname: Spanu
authors.forename: Sebastian
authors.initials: S
authors.lastname: Oltean
mesh_terms: D058186:Acute Kidney Injury / Q000150:complications*; D000293:Adolescent; D005260:Female; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000235:genetics; D010735:Phosphoglycerate Kinase / Q000172:deficiency*; D012326:RNA Splicing; D012206:Rhabdomyolysis / Q000150:complications*
chemical_list: D010735:Phosphoglycerate Kinase