Associated Papers
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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