PubMed Clinical Queries
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Results for Clinical Studies: Therapy/Broad
5 of 15 results sorted by: Most RecentSee all results in PubMed (15)
Variant in the allosteric domain of CPS1 protein associated with effectiveness of N-carbamoyl glutamate therapy in neonatal onset CPS1 deficiency.
J Pediatr Endocrinol Metab. 2023. PMID: 37427576
Long-term survival of a patient with acute neonatal-onset metabolic encephalopathy with carbamoyl phosphate synthetase 1 deficiency.
Eur Rev Med Pharmacol Sci. 2020. PMID: 33090410 Free article.
Sustained Virologic Remission in an 8-Month-old Pediatric Patient With Carbamoyl Phosphate Synthetase I Deficiency and Hepatitis C Infection Using Direct-acting Antivirals Prior to Liver Transplant.
J Pediatr Gastroenterol Nutr. 2021. PMID: 32732637 No abstract available.
Split AAV-Mediated Gene Therapy Restores Ureagenesis in a Murine Model of Carbamoyl Phosphate Synthetase 1 Deficiency.
Mol Ther. 2020. PMID: 32359471 Free PMC article.
Conditional disruption of hepatic carbamoyl phosphate synthetase 1 in mice results in hyperammonemia without orotic aciduria and can be corrected by liver-directed gene therapy.
Mol Genet Metab. 2018. PMID: 29801986 Free PMC article.