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1
Novel Neonatal Variants of the Carbamoyl Phosphate Synthetase 1 Deficiency: Two Case Reports and Review of Literature
Published 2019-08-01Subjects: Get full text
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2
Novel pathogenic variant (c.2947C > T) of the carbamoyl phosphate synthetase 1 gene in neonatal-onset deficiency
Published 2022-10-01Subjects: “…carbamoyl phosphate synthetase 1 (CPS1)…”
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3
Delayed carbamoyl phosphate synthase I deficiency in infants: a case report and literature analysis
Published 2020-08-01Subjects: “…carbamoyl phosphate synthetase i deficiency…”
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4
Metabolic Modulation of Intracellular Ammonia via Intravesical Instillation of Nanoporter‐Encased Hydrogel Eradicates Bladder Carcinoma
Published 2023-04-01Subjects: Get full text
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5
Infliximab Modulates Cisplatin-Induced Hepatotoxicity in Rats
Published 2016-10-01Subjects: “…Carbamoyl-phosphate synthetase 1…”
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6
Clinical features and CPS1 variants in Chinese patients with carbamoyl phosphate synthetase 1 deficiency
Published 2024-08-01Subjects: Get full text
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7
Novel compound heterozygote variants: c.4193_4206delinsG (p.Leu1398Argfs*25), c.793C > A (p.Pro265Thr), in the CPS1 gene (NM_001875.4) causing late onset carbamoyl phosphate synthe...
Published 2022-12-01Subjects: “…Carbamoyl phosphate synthetase 1 deficiency…”
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8
Hyperammonemia in a carbamoyl-phosphate synthetase 1 deficiency recipient after living-donor liver transplantation from a carrier donor: a case report
Published 2024-01-01Subjects: “…carbamoyl-phosphate synthetase 1 deficiency disease…”
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9
CPS1 augments hepatic glucagon response through CaMKII/FOXO1 pathway
Published 2024-08-01Subjects: Get full text
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11
Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening
Published 2020-10-01Subjects: Get full text
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