Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency.
Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):113-20. doi: 10.1002/ajmg.c.30091.
Am J Med Genet C Semin Med Genet. 2006.
PMID: 16602094
Free PMC article.
Review.
Urea cycle disorders are a group of inborn errors of hepatic metabolism that often result in life threatening hyperammonemia and hyperglutaminemia. Deficiencies of all of the enzymes of the cycle have been described and although each specific disorder results in the accumu …
Urea cycle disorders are a group of inborn errors of hepatic metabolism that often result in life threatening hyperammonemia and hyperglu …