1. Van Bergen, Nicole J, Walvekar, Adhish S, Patraskaki, Myrto, Linster, Carole L, Christodoulou, John. 2022. Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency. In Journal of inherited metabolic disease, 45, 1028-1038. doi:10.1002/jimd.12541. https://pubmed.ncbi.nlm.nih.gov/35866541/
2. Cepress, Marissa, Grund, Ethan, Leng, Tomas, Mohandesi, Nessa Aghazadeh, Homme, Jason. 2024. Progressive encephalopathy after routine 4-month immunizations in a patient with NAXD genetic variant. In American journal of medical genetics. Part A, 194, e63519. doi:10.1002/ajmg.a.63519. https://pubmed.ncbi.nlm.nih.gov/38214124/
3. Oz Tuncer, Gökçen, Randa, Nadide Cemre, Aydin, Seren, Aksoy, Ayşe. 2022. A Case with NAD(P)HX Dehydratase (NAXD) Deficiency: A Newly Defined Mutation in a Novel Neurodegenerative Disorder. In Molecular syndromology, 13, 332-336. doi:10.1159/000520553. https://pubmed.ncbi.nlm.nih.gov/36158054/
4. Walvekar, Adhish S, Warmoes, Marc, Cheung, Dean, Christodoulou, John, Linster, Carole L. 2025. Failure to repair damaged NAD(P)H blocks de novo serine synthesis in human cells. In Cellular & molecular biology letters, 30, 3. doi:10.1186/s11658-024-00681-8. https://pubmed.ncbi.nlm.nih.gov/39789421/
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