Articles with "nkh patients" as a keyword



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

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Published in 2022 at "Journal of Inherited Metabolic Disease"

DOI: 10.1002/jimd.12500

Abstract: 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.… read more here.

Keywords: serine threonine; glycine serine; nkh patients; serine ... See more keywords