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Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia

Nonketotic hyperglycinemia (NKH) is caused by deficient glycine cleavage enzyme activity and characterized by elevated brain glycine. Metabolism of glycine is connected enzymatically to serine through serine hydroxymethyltransferase and shares transporters with serine and threonine. We aimed to eval...

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Detalles Bibliográficos
Autores principales: Swanson, Michael A., Miller, Kristen, Young, Sarah P., Tong, Suhong, Ghaloul‐Gonzalez, Lina, Neira‐Fresneda, Juanita, Schlichting, Lisa, Peck, Cheryl, Gabel, Linda, Friederich, Marisa W., Van Hove, Johan L. K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9543955/
https://www.ncbi.nlm.nih.gov/pubmed/35357708
http://dx.doi.org/10.1002/jimd.12500