Polymorphisms in urea cycle enzyme genes are associated with persistent pulmonary hypertension of the newborn

@article{Kaluarachchi2018PolymorphismsIU,
  title={Polymorphisms in urea cycle enzyme genes are associated with persistent pulmonary hypertension of the newborn},
  author={Dinushan C. Kaluarachchi and Caitlin J. Smith and Jonathan M. Klein and Jeffrey C Murray and John M. Dagle and Kelli K. Ryckman},
  journal={Pediatric Research},
  year={2018},
  volume={83},
  pages={142-147}
}
BackgroundPersistent pulmonary hypertension of the newborn (PPHN) is characterized by elevated pulmonary vascular resistance. Endogenous nitric oxide is critical for regulation of pulmonary vascular resistance. Nitric oxide is generated from L-arginine, supplied by the urea cycle (UC). We hypothesized that polymorphisms in UC enzyme genes and low concentrations of UC intermediates are associated with PPHN.MethodsWe performed a family-based candidate gene analysis to study 48 single-nucleotide… CONTINUE READING
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