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Quoted phrase not found in phrase index: "Congenital brain dysgenesis due to glutamine synthetase deficiency"
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Cellular and molecular characterization of two novel asparagine synthetase gene mutations linked to asparagine synthetase deficiency.
Staklinski SJ, Chang MC, Yu F, Collins Ruff K, Franz DN, Qian Z, Bloom LB, Merritt ME, McKenna R, Kilberg MS. Staklinski SJ, et al. J Biol Chem. 2022 Sep;298(9):102385. doi: 10.1016/j.jbc.2022.102385. Epub 2022 Aug 17. J Biol Chem. 2022. PMID: 35985424 Free PMC article.
Asparagine synthetase deficiency (ASNSD) results from biallelic mutations in the ASNS gene. Affected children exhibit congenital microcephaly, continued brain atrophy, seizures, and often premature mortality. ...
Asparagine synthetase deficiency (ASNSD) results from biallelic mutations in the ASNS gene. Affected children exhibit conge …
Inborn error of amino acid synthesis: human glutamine synthetase deficiency.
Häberle J, Görg B, Toutain A, Rutsch F, Benoist JF, Gelot A, Suc AL, Koch HG, Schliess F, Häussinger D. Häberle J, et al. J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):352-8. doi: 10.1007/s10545-006-0256-5. J Inherit Metab Dis. 2006. PMID: 16763901 Review.
Inherited systemic deficiency of glutamine based on a defect of glutamine synthetase was recently described in two newborns with an early fatal course of disease. ...From the observation in the first patients with congenital glutamine …
Inherited systemic deficiency of glutamine based on a defect of glutamine synthetase was recently described in t …
Metabolomic Profiling of Asparagine Deprivation in Asparagine Synthetase Deficiency Patient-Derived Cells.
Chang MC, Staklinski SJ, Malut VR, Pierre GL, Kilberg MS, Merritt ME. Chang MC, et al. Nutrients. 2023 Apr 18;15(8):1938. doi: 10.3390/nu15081938. Nutrients. 2023. PMID: 37111157 Free PMC article.
ASNS catalyzes the ATP-dependent synthesis of Asn from aspartate by consuming glutamine as a nitrogen source. Asparagine Synthetase Deficiency (ASNSD) is a disease that results from biallelic mutations in the ASNS gene and presents with congenital micr …
ASNS catalyzes the ATP-dependent synthesis of Asn from aspartate by consuming glutamine as a nitrogen source. Asparagine Synthetas …