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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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Principais autores: Marta Spodenkiewicz, Carmen Diez-Fernandez, Véronique Rüfenacht, Corinne Gemperle-Britschgi, Johannes Häberle
Format: Artigo
Sprog:Inglês
Udgivet: MDPI AG 2016-10-01
Serier:Biology
Fag:
glutamine synthetase
rare disease
GLUL
epileptic encephalopathy
GS deficiency
glutamine-glutamate-GABA
hyperammonemia
inborn error of metabolism
Online adgang:http://www.mdpi.com/2079-7737/5/4/40
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