Infants with ornithine transcarbamylase (OTC) and carbamoylphosphate synthetase deficiency usually show severe neonatal symptoms, though deficiency of argininosuccinate lyase or citrullinemia can ...

Levels of citrulline, threonine, methionine, tyrosine and arginine and the threonine-to-serine ratio were higher in children with neonatal intrahepatic cholestasis caused by NICCD compared with ...

A deficiency of AS (citrullinemia), the third enzyme in the ... a heterozygote x heterozygote mating at the animal facility in Children's National Medical Center. The human AS cDNA was obtained ...

today announced the successful treatment of an infant with genetic condition called Citrullinemia (Urea Cycle disorder). The girl baby named Rafeeda Fathima aged 2 years, was brought to the ...