7 studies found for:    "carbamoyl phosphate synthetase I deficiency"
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"carbamoyl phosphate synthetase I deficiency" (7 records)
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Rank Status Study
1 Completed Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders
Conditions: Urea Cycle Disorders;   Carbamoylphosphate Synthetase I Deficiency;   Ornithine Transcarbamylase Deficiency;   Citrullinemia
Intervention: Biological: Human Heterologous Liver Cells
2 Recruiting Short-term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia
Conditions: Propionic Acidemia, Type I and/or Type II;   Methylmalonic Acidemia;   Carbamoyl-Phosphate Synthase I Deficiency Disease;   Ornithine Carbamoyltransferase Deficiency
Interventions: Drug: Carbaglu;   Drug: Placebo;   Drug: Standard Care Treatment
3 Withdrawn Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate
Conditions: Urea Cycle Disorders, Inborn;   Inborn Errors of Metabolism;   Propionic Acidemia;   Methylmalonic Acidemia;   Carbamyl Phosphate Synthetase Deficiency
Intervention: Drug: N-carbamylglutamate
4 Terminated The NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity
Conditions: Argininosuccinic Aciduria;   Carbamoyl-Phosphate Synthase I Deficiency;   Citrullinemia;   Ornithine Carbamoyltransferase Deficiency;   Hyperargininemia;   N-Acetylglutamate Synthase Deficiency
Intervention:
5 Completed L-arginine Concentrations and CPS Polymorphisms in VLBW Infants
Condition: Infant, Very Low Birth Weight
Intervention: Other: blood sample and buccal swab sample
6 Completed Pilot Study For Hypothermia Treatment In Hyperammonemic Encephalopathy In Neonates And Very Young Infants
Conditions: Urea Cycle Disorders;   Organic Acidemias
Interventions: Other: Therapeutic Hypothermia;   Other: Standard of Care Therapy
7 Suspended Hepatocyte Transplantation for Liver Based Metabolic Disorders
Condition: Metabolic Diseases
Interventions: Drug: human hepatocyte transplantation;   Radiation: Preparative Radiation Therapy

Indicates status has not been verified in more than two years