Severe NAD(P)HX Dehydratase (NAXD) 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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9963268/
https://www.ncbi.nlm.nih.gov/pubmed/36834994
http://dx.doi.org/10.3390/ijms24043582

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