Garcia M, Pujol A, Ruzo A, Riu E, Ruberte J, Arbos A, Serafin A, Albella B, Feliu JE, Bosch F, Phosphofructo-1-kinase deficiency leads to a severe cardiac and hematological disorder in addition to skeletal muscle glycogenosis. PLoS Genet. 2009 Aug;5(8):e1000615