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Objective
Glycine encephalopathy, also known as nonketotic hyperglycinemia (NKH), is an inherited neurometabolic disorder with variable clinical course and severity, ranging from infantile epileptic encephalopathy to psychiatric disorders. A precise phenotypic characterization and an evaluation of predictive approaches are needed.
Methods
Longitudinal clinical and biochemical data of 25 individuals...
Objective
Individuals with urea cycle disorders (UCDs) often present with intellectual and developmental disabilities. The major aim of this study was to evaluate the impact of diagnostic and therapeutic interventions on cognitive outcomes in UCDs.
Methods
This prospective, observational, multicenter study includes data from 503 individuals with UCDs who had comprehensive neurocognitive testing...
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