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Minireview on Glutamine Synthetase Deficiency, an Ultra-Rare Inborn Error of Amino Acid Biosynthesis
Glutamine synthetase (GS) is a cytosolic enzyme that produces glutamine, the most abundant free amino acid in the human body. Glutamine is a major substrate for various metabolic pathways, and is thus an important factor for the functioning of many organs; therefore, deficiency of glutamine due to a...
Autores principales: | Spodenkiewicz, Marta, Diez-Fernandez, Carmen, Rüfenacht, Véronique, Gemperle-Britschgi, Corinne, Häberle, Johannes |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5192420/ https://www.ncbi.nlm.nih.gov/pubmed/27775558 http://dx.doi.org/10.3390/biology5040040 |
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