The Application of Next-Generation Sequencing (NGS) in Neonatal-Onset Urea Cycle Disorders (UCDs): Clinical Course, Metabolomic Profiling, and Genetic Findings in Nine Chinese Hyperammonemia Patients

During Jan. 2016–Dec. 2019, nine Chinese patients from eight unrelated families were diagnosed with neonatal-onset UCDs by targeted panel sequencing or whole-exome sequencing (WES). Their clinical manifestations, biochemical features, 180-day-age outcomes, and molecular genetic characteristics were...

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Detalles Bibliográficos
Autores principales: Zhou, Qingnv, Huang, Huafei, Ma, Li, Zhu, Tianwen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7479453/
https://www.ncbi.nlm.nih.gov/pubmed/32934962
http://dx.doi.org/10.1155/2020/5690915

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7479453/
https://www.ncbi.nlm.nih.gov/pubmed/32934962
http://dx.doi.org/10.1155/2020/5690915

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