Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance

Glutamine synthetase (GS) is ubiquitously expressed in mammalian organisms and is a key enzyme in nitrogen metabolism. It is the only known enzyme capable of synthesising glutamine, an amino acid with many critical roles in the human organism. A defect in GLUL, encoding for GS, leads to congenital s...

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Detalles Bibliográficos
Autores principales: Häberle, Johannes, Shahbeck, Noora, Ibrahim, Khalid, Schmitt, Bernhard, Scheer, Ianina, O’Gorman, Ruth, Chaudhry, Farrukh A, Ben-Omran, Tawfeg
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3495849/
https://www.ncbi.nlm.nih.gov/pubmed/22830360
http://dx.doi.org/10.1186/1750-1172-7-48

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3495849/
https://www.ncbi.nlm.nih.gov/pubmed/22830360
http://dx.doi.org/10.1186/1750-1172-7-48

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