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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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Detalles Bibliográficos
Publicado en:J Inherit Metab Dis
Autores principales: Rumping, Lynne, Vringer, Esmee, Houwen, Roderick H. J., van Hasselt, Peter M., Jans, Judith J. M., Verhoeven‐Duif, Nanda M.
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley & Sons, Inc. 2019
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Acceso en línea: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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