NAXE gene mutation-related progressive encephalopathy-Reference-Cited by-同舟云学术

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NAXE gene mutation-related progressive encephalopathy

Published:2021-10-22 Issue:42 Volume:100 Page:e27548
ISSN:0025-7974
Container-title:Medicine
language:en
Short-container-title:

Author:

Chiu Li-Wei,Lin Sheng-Shing,Chen Chieh-Ho,Lin Chien-Heng,Lee Ni-Chung,Hong Syuan-Yu,Chou I-Ching,Lin Chien-Lin,Yang Pei-Yu

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine

Reference7 articles.

1. Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy;Spiegel;Neurogenetics,2016

2. NAXE mutations disrupt the cellular NAD(P)HX repair system and cause a lethal neurometabolic disorder of early childhood;Kremer;Am J Hum Genet,2016

3. Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment;Trinh;J Neurol,2020

4. Early-onset progressive encephalopathy associated with NAXE gene variants: a case report of a Turkish child;Incecik;Acta Neurologica Belgica,2020

5. NAD+ metabolism and the control of energy homeostasis: a balancing act between mitochondria and the nucleus;Cantó;Cell Metabolism,2015

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Transient response to high‐dose niacin therapy in a patient with NAXE deficiency;JIMD Reports;2024-05-09

2. Long-term follow-up of an attenuated presentation of NAXE-related disease, a potentially actionable neurometabolic disease: a case report;Frontiers in Neurology;2024-02-14

3. Progressive encephalopathy after routine 4‐month immunizations in a patient with NAXD genetic variant;American Journal of Medical Genetics Part A;2024-01-12

4. Hybrid feature selection to identify important single nucleotide polymorphism for asthma classification;AIP Conference Proceedings;2024

5. Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency;Journal of Inherited Metabolic Disease;2022-08-07

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