Associated Papers
Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review.
Kido J et al.
Frontiers in Genetics, 2022
OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohort.
Gobin-Limballe S et al.
Journal of Inherited Metabolic Disease, 2021
Mutation Study of Malaysian Patients with Ornithine Transcarbamylase Deficiency: Clinical, Molecular, and Bioinformatics Analyses of Two Novel Missense Mutations of the OTC Gene.
Ali EZ et al.
Biomed Research International, 2018
Mutations and polymorphisms in the human ornithine transcarbamylase gene.
Tuchman M et al.
Human Mutation, 2002
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