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Article

Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia.

Annals of neurology - 1 Aug 2022

Kuseyri Hübschmann Oya, Juliá-Palacios Natalia Alexandra, Olivella Mireia, Guder Philipp, Zafeiriou Dimitrios I, Horvath Gabriella, Kulhánek Jan, Pearson Toni S, Kuster Alice, Cortès-Saladelafont Elisenda, Ibáñez Salvador, García-Jiménez Maria Concepción, Honzík Tomáš, Santer René, Jeltsch Kathrin, Garbade Sven F, Hoffmann Georg F, Opladen Thomas, García-Cazorla Ángeles

Abstract excerpt

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 with NKH...

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PMID: 35616651
DOI: 10.1002/ana.26423

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