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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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Detalhes bibliográficos
Publicado no:J Inherit Metab Dis
Main Authors: Rumping, Lynne, Vringer, Esmee, Houwen, Roderick H. J., van Hasselt, Peter M., Jans, Judith J. M., Verhoeven‐Duif, Nanda M.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Inc. 2019
Assuntos:
Acesso em linha: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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