Associated Papers
Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review.
Kido J et al.
Frontiers in Genetics, 2022
Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review.
Kido J et al.
American Journal of Medical Genetics. Part A, 2021
Retrospective evaluations revealed pre-symptomatic citrulline concentrations measured by newborn screening were significantly low in late-onset ornithine transcarbamylase deficiency patients.
Lee T et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020
Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation.
Lee T et al.
Human Genome Variation, 2018
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