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Hemizygous deletion in the OTC gene results in ornithine transcarbamylase deficiency: A case report

BACKGROUND: Ornithine transcarbamylase deficiency (OTCD) is a common ornithine cycle disorder, and OTC gene variation is the main pathogenic factor of this disease. This study explored and validated a variant in the OTC gene. CASE SUMMARY: The neonate exhibited high blood ammonia, lactic acid, and h...

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Detalles Bibliográficos
Autores principales:	Wang, Li-Ping, Luo, Hou-Zhong, Song, Mao, Yang, Zuo-Zhen, Yang, Fan, Cao, Yun-Tao, Chen, Juan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Baishideng Publishing Group Inc 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8855188/ https://www.ncbi.nlm.nih.gov/pubmed/35211578 http://dx.doi.org/10.12998/wjcc.v10.i4.1417

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