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1. Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneo…
2. Hereditary urea cycle diseases in Finland.
3. Interstitial deletion of chromosome 2q32-34 associated with multiple congenital anomalies and a urea…
4. Ornithine transcarbamylase deficiency presenting as recurrent abdominal pain in childhood.
5. Novel human pathological mutations. Gene symbol: CPS1. Disease: carbamoyl phosphate synthetase I def…

1. The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity
2. Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia
3. Valproic Acid-associated Hypoalbuminemia in Medically Fragile Patients
4. Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate
5. Hepatic Histopathology in Urea Cycle Disorders