# NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/nad-p-hx-dehydratase-naxd-deficiency-a-novel-neurodegenerative-disorder/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Nicole J. Van Bergen,Yiran Guo,Julia Rankin,Nicole Paczia,Julia Becker‐Kettern,Laura S. Kremer,Angela Pyle,Jean‐François Conrotte,Carolyn Ellaway,Peter Procopis,Kristina Prelog,Tessa Homfray,Júlia Baptista,Emma L. Baple,Matthew N. Wakeling,Sean Massey,Daniel P. Kay,Anju Shukla,Katta M. Girisha,Leslie Lewis,Saikat Santra,Rachel Power,Piers Daubeney,Julio Montoya,Eduardo Ruiz‐Pesini,Réka Kovács-Nagy,Martin Pritsch,Uwe Ahting,David R. Thorburn,Holger Prokisch,Robert W. Taylor,John Christodoulou,Carole L. Linster,Sian Ellard,Håkon Håkonarson |
| Citations | 73 |
| DOI | 10.1093/brain/awy310 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | bronze |
| OA URL | https://academic.oup.com/brain/article-pdf/142/1/50/27296144/awy310.pdf |
| OpenAlex ID | https://openalex.org/W2906086412 |
| PMID | 30576410 |
| Type | article |
| Year | 2018 |

## Paper authors

- [Leslie Lewis](https://scholariq.org/researchers/leslie-lewis/)

## Paper journal

- [Brain](https://scholariq.org/journals/brain/)

## Paper primary topic

- [Metabolism and Genetic Disorders](https://scholariq.org/topics/metabolism-and-genetic-disorders/)

## Paper topics

- [Metabolism and Genetic Disorders](https://scholariq.org/topics/metabolism-and-genetic-disorders/)
- [Mitochondrial Function and Pathology](https://scholariq.org/topics/mitochondrial-function-and-pathology/)
- [Genetics and Neurodevelopmental Disorders](https://scholariq.org/topics/genetics-and-neurodevelopmental-disorders/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.