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
N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case report.
Selvanathan A et al.
Jimd Reports, 2022
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