Associated Papers
Datamining approaches for examining the low prevalence of N-acetylglutamate synthase deficiency and understanding transcriptional regulation of urea cycle genes.
Caldovic L et al.
Journal of Inherited Metabolic Disease, 2024
37847851 (PubMed )
Supplement: JIMD-47-1175-s001.xlsx › Table_S1
Early care of N-acetyl glutamate synthase (NAGS) deficiency in three infants from an inbred family.
Peoc'h K et al.
Molecular Genetics and Metabolism Reports, 2020
N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra.
Al Kaabi EH et al.
Molecular Genetics and Metabolism Reports, 2016
Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations.
Sancho-Vaello E et al.
Human Mutation, 2016
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