Severe NAD Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma

We have previously reported that pathogenic variants in a key metabolite repair enzyme NAXD cause a lethal neurodegenerative condition triggered by episodes of fever in young children. However, the clinical and genetic spectrum of NAXD deficiency is broadening as our understanding of the disease exp...

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Veröffentlicht in:	International journal of molecular sciences 2023-02, Vol.24 (4)
Hauptverfasser:	Van Bergen, Nicole J, Gunanayagam, Karen, Bournazos, Adam M, Walvekar, Adhish S, Warmoes, Marc O, Semcesen, Liana N, Lunke, Sebastian, Bommireddipalli, Shobhana, Sikora, Tim, Patraskaki, Myrto, Jones, Dean L, Garza, Denisse, Sebire, Dale, Gooley, Samuel, McLean, Catriona A, Naidoo, Parm, Rajasekaran, Mugil, Stroud, David A, Linster, Carole L, Wallis, Mathew, Cooper, Sandra T, Christodoulou, John
Format:	Artikel
Sprache:	eng
Schlagworte:	Adults Enzymes Head injuries Medical research Medicine, Experimental Metabolites RNA Scientific equipment and supplies industry
Online-Zugang:	Volltext
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