Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review

Ornithine transcarbamylase deficiency (OTCD) is an X-linked disorder. Several male patients with OTCD suffer from severe hyperammonemic crisis in the neonatal period, whereas others develop late-onset manifestations, including hyperammonemic coma. Females with heterozygous pathogenic variants in the...

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Detalles Bibliográficos
Autores principales: Kido, Jun, Sugawara, Keishin, Sawada, Takaaki, Matsumoto, Shirou, Nakamura, Kimitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9593096/
https://www.ncbi.nlm.nih.gov/pubmed/36303552
http://dx.doi.org/10.3389/fgene.2022.952467

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9593096/
https://www.ncbi.nlm.nih.gov/pubmed/36303552
http://dx.doi.org/10.3389/fgene.2022.952467

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