Carbamoyl Phosphate Synthetase 1 deficiency in Italy: Clinical and genetic findings in a heterogeneous cohort-Reference-Cited by-同舟云学术

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Carbamoyl Phosphate Synthetase 1 deficiency in Italy: Clinical and genetic findings in a heterogeneous cohort

Published:2012-02 Issue:2 Volume:493 Page:228-234
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Funghini S.,Thusberg J.,Spada M.,Gasperini S.,Parini R.,Ventura L.,Meli C.,De Cosmo L.,Sibilio M.,Mooney S.D.,Guerrini R.,Donati M.A.,Morrone A.

Publisher

Elsevier BV

Subject

Genetics,General Medicine

Reference31 articles.

1. Human carbamoyl-phosphate synthetase: insight into N-acetylglutamate interaction and the functional effects of a common single nucleotide polymorphism;Ahuja;J. Inherit. Metab. Dis.,2008

2. Basic local alignment search tool;Altschul;J. Mol. Biol.,1990

3. Effect of cardiopulmonary bypass on urea cycle intermediates and nitric oxide levels after congenital heart surgery;Barr;J. Pediatr.,2003

4. Urea cycle enzymes;Brusilow,2001

5. Genetic variation in the mitochondrial enzyme carbamyl-phosphate synthetase I predisposes children to increased pulmonary artery pressure following surgical repair of congenital heart defects: a validated genetic association study;Canter;Mitochondrion,2007

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1. Widespread temporal niche partitioning in an adaptive radiation of cichlid fishes;2024-06-02

2. Datamining approaches for examining the low prevalence of N‐acetylglutamate synthase deficiency and understanding transcriptional regulation of urea cycle genes;Journal of Inherited Metabolic Disease;2023-11-05

3. Unraveling the therapeutic potential of carbamoyl phosphate synthetase 1 (CPS1) in human diseases;Bioorganic Chemistry;2023-01

4. 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 synthetase 1 deficiency—Lessons learned;Molecular Genetics and Metabolism Reports;2022-12

5. Novel pathogenic variant (c.2947C > T) of the carbamoyl phosphate synthetase 1 gene in neonatal-onset deficiency;Frontiers in Neuroscience;2022-10-21

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