Case Report: Unveiling Genetic and Phenotypic Variability in Nonketotic Hyperglycinemia: an Atypical Early Onset Case Associated with a Novel GLRX5 Variant
Frontiers in Genetics（2024）
Key words
Nonketotic hyperglycinemia,NKH,GLRX5,glycine cleavage system,metabolic disorders,clinical genetics
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