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Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia

OBJECTIVE: Nonketotic hyperglycinemia is a neurometabolic disorder characterized by intellectual disability, seizures, and spasticity. Patients with attenuated nonketotic hyperglycinemia make variable developmental progress. Predictive factors have not been systematically assessed. METHODS: We revie...

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Vydáno v:Ann Neurol
Hlavní autoři: Swanson, Michael A., Coughlin, Curtis R., Scharer, Gunter H., Szerlong, Heather J., Bjoraker, Kendra J., Spector, Elaine B., Creadon‐Swindell, Geralyn, Mahieu, Vincent, Matthijs, Gert, Hennermann, Julia B., Applegarth, Derek A., Toone, Jennifer R., Tong, Suhong, Williams, Kristina, Van Hove, Johan L. K.
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2015
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4767401/
https://ncbi.nlm.nih.gov/pubmed/26179960
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.24485
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