Breakthrough in Rare Genetic Disease Treatment Offers New Hope for Infants
A rare genetic disease that claims 50% of babies diagnosed with it by early infancy has shown promising results in a medical first performed at the Children’s Hospital of Philadelphia. KJ Muldoon, an infant from Clifton Heights, was born with a deadly metabolic disorder called carbamoyl-phosphate synthetase 1 deficiency. The disease affects the urea cycle … Read more