Articles with "infants citrullinemia" as a keyword



Photo by ziegi from unsplash

Identification of Novel Mutations in Chinese Infants With Citrullinemia

Sign Up to like & get
recommendations!
Published in 2022 at "Frontiers in Genetics"

DOI: 10.3389/fgene.2022.783799

Abstract: Citrullinemia is a rare autosomal recessive disorder characterized by elevated concentrations of citrulline in the blood resulting from malfunction of the urea cycle. It is categorized into two types, types I and II, which are… read more here.

Keywords: chinese infants; ass1; infants citrullinemia; novel mutations ... See more keywords