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Genetic background and clinical characteristics of infantile hyperammonemia

BACKGROUND: This study was conducted to analyze the genetic spectrum and clinical characteristics of infantile hyperammonemia. METHODS: Between January 2016 and June 2020, we retrospectively enrolled infantile hyperammonemia patients with definitive genetic diagnosis at the Children’s Hospital of Fu...

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Detalles Bibliográficos
Autores principales: Li, Mengyao, Chen, Xiang, Chen, Huiyao, Hu, Liyuan, Cao, Yun, Cheng, Guoqiang, Wang, Laishuan, Wu, Bingbing, Lu, Wei, Yang, Lin, Zhou, Wenhao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10248927/
https://www.ncbi.nlm.nih.gov/pubmed/37305718
http://dx.doi.org/10.21037/tp-22-359