- Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing
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Choi R, Park HD, Yang M, Ki CS, Lee SY, Kim JW, Song J, Chang YS, Park WS
- KMID: 2373615
- Ann Lab Med.
- 2017 Jan;37(1):58-62.
- doi: 10.3343/alm.2017.37.1.58
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... -
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