Associated Papers
Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review.
Kido J et al.
Frontiers in Genetics, 2022
Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.
Bijarnia-Mahay S et al.
Orphanet Journal of Rare Diseases, 2018
Noninvasive Prenatal Diagnosis of Single-Gene Disorders by Use of Droplet Digital PCR.
Camunas-Soler J et al.
Clinical Chemistry, 2018
Mutations and polymorphisms in the human ornithine transcarbamylase gene.
Tuchman M et al.
Human Mutation, 2002
Select a paper to view details