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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...

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Detalles Bibliográficos
Autores principales: Spodenkiewicz, Marta, Diez-Fernandez, Carmen, Rüfenacht, Véronique, Gemperle-Britschgi, Corinne, Häberle, Johannes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2016
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