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Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency
The central cofactors NAD(P)H are prone to damage by hydration, resulting in formation of redox‐inactive derivatives designated NAD(P)HX. The highly conserved enzymes NAD(P)HX dehydratase (NAXD) and NAD(P)HX epimerase (NAXE) function to repair intracellular NAD(P)HX. Recently, pathogenic variants in...
Autores principales: | Van Bergen, Nicole J., Walvekar, Adhish S., Patraskaki, Myrto, Sikora, Tim, Linster, Carole L., Christodoulou, John |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9804276/ https://www.ncbi.nlm.nih.gov/pubmed/35866541 http://dx.doi.org/10.1002/jimd.12541 |
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