Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing

Diagnosis of the urea cycle disorder (USD) carbamoyl-phosphate synthetase 1 (CPS1) deficiency (CPS1D) based on only the measurements of biochemical intermediary metabolites is not sufficient to properly exclude other UCDs with similar symptoms. We report the first Korean CPS1D patient using whole ex...

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Detalles Bibliográficos
Autores principales: Choi, Rihwa, Park, Hyung-Doo, Yang, Mina, Ki, Chang-Seok, Lee, Soo-Youn, Kim, Jong-Won, Song, Junghan, Chang, Yun Sil, Park, Won Soon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society for Laboratory Medicine 2017
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5107619/
https://www.ncbi.nlm.nih.gov/pubmed/27834067
http://dx.doi.org/10.3343/alm.2017.37.1.58

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5107619/
https://www.ncbi.nlm.nih.gov/pubmed/27834067
http://dx.doi.org/10.3343/alm.2017.37.1.58

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