Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia.
Oya Kuseyri HübschmannNatalia Alexandra Juliá-PalaciosMireia OlivellaPhilipp GuderDimitrios I ZafeiriouGabriella HorvathJan KulhánekToni S PearsonAlice KusterElisenda Cortés-SaladelafontSalvador IbáñezMaria Concepción García-JiménezTomáš HonzíkRené SanterKathrin JeltschSven F GarbadeGeorg F HoffmannThomas OpladenÁngeles García-CazorlaPublished in: Annals of neurology (2022)
This study widens the phenotypic spectrum of attenuated NKH and expands the number of pathogenic variants. The multiparametric approach provides a promising tool to predict disease severity, helping to improve clinical management strategies. ANN NEUROL 2022;92:292-303.
Keyphrases