PC, pyruvate carboxylase, 5091

N. diseases: 183; N. variants: 32
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1579665
Disease: Leg ischaemia
Leg ischaemia
0.010 AlteredExpression disease BEFREE We describe a case of PF in a newborn with left leg ischemia and undetectable PC levels soon after birth. 29683961 2018