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Inborn errors of enzymes in glutamate metabolism

Glutamate is involved in a variety of metabolic pathways. We reviewed the literature on genetic defects of enzymes that directly metabolise glutamate, leading to inborn errors of glutamate metabolism. Seventeen genetic defects of glutamate metabolising enzymes have been reported, of which three were...

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Bibliografski detalji
Izdano u:J Inherit Metab Dis
Glavni autori: Rumping, Lynne, Vringer, Esmee, Houwen, Roderick H. J., van Hasselt, Peter M., Jans, Judith J. M., Verhoeven‐Duif, Nanda M.
Format: Artigo
Jezik:Inglês
Izdano: John Wiley & Sons, Inc. 2019
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7078983/
https://ncbi.nlm.nih.gov/pubmed/31603991
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12180
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