Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology, and Child Health
Reference33 articles.
1. Comprehensive mutation analysis of GLDC, AMT and GCSH in nonketotic hyperglycinemia;Kure;Hum Mutat,2006
2. Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy;Conter;J Inherit Metab Dis,2006
3. Prediction of long-term outcome in glycine encephalopathy: a clinical survey;Hennermann;J Inherit Metab Dis,2012
4. Atypical variants of nonketotic hyperglycinemia;Dinopoulos;Mol Genet Metab,2005
5. Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia;Swanson;Ann Neurol,2015
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