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Paper Details

The Application of Neurodiagnostic Studies to Inform the Acute Management of a Newborn Presenting With Sarbamoyl Shosphate Synthetase 1 Deficiency.
1
2021
CPS1, HA encephalopathy, Sarbamoyl Shosphate, Sarbamoyl Shosphate Synthetase 1, Sarbamoyl Shosphate Synthetase 1 Deficiency, UCDs, carbamoyl phosphate, carbamoyl phosphate synthetase 1, carbamoyl phosphate synthetase 1 (CPS1) deficiency, coma, encephalopathy, hyperammonemic (HA) encephalopathy, hyperammonemic crisis, seizures, urea, urea cycle disorders
Author NameAffiliation
Carlos R FerreiraNational Human Genome Research Institute
Taeun ChangChildren's National Hospital, George Washington University School of Medicine
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Datasets

Release 1.2