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Scientific Reports, ISSN 2045-2322, 10/2018, Volume 8, Issue 1, pp. 15436 - 7
textabstractN-acetylglutamate synthase deficiency (NAGSD, MIM #237310) is an autosomal recessive disorder of the urea cycle that results from absent or... 
GENETIC-VARIATION | NAGS GENE | ELEMENTS | GENOMES | SCORES | MULTIDISCIPLINARY SCIENCES | MUTATION | TRANSCRIPTION | UREAGENESIS | CARBAMYLGLUTAMATE | Urea | Enzymes | Conserved sequence | Uniparental disomy | Hyperammonemia | Regulatory sequences | Dietary intake | Gene expression | Patients | Bioinformatics | Chromosome 17 | Hereditary diseases
Journal Article
Journal Article
Journal Article
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2013, Volume 8, Issue 1, pp. 51 - 51
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 10/2015, Volume 38, Issue 5, pp. 889 - 894
Journal Article