Early-onset progressive encephalopathy associated with NAXE gene variants: a case report of a Turkish child
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s13760-019-01242-z.pdf
Reference8 articles.
1. Spiegel R, Shaag A, Shalev S, Elpeleg O (2016) Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy. Neurogenetics 17:187–190
2. Kremer LS, Danhauser K, Herebian D, Petkovic Ramadza D, Piekutowska-Abramczuk D, Seibt A et al (2016) NAXE mutations disrupt the cellular NAD(P)HX repair system and cause a lethal neurometabolic disorder of early childhood. Am J Hum Genet 99:894–902
3. Houtkooper RH, Canto C, Wanders RJ, Auwerx J (2010) The secret life of NAD+: an old metabolite controlling new metabolic signaling pathways. Endocr Rev 31:194–223
4. Rafter GW, Chaykin S, Krebs EG (1954) The action of glyceraldehyde-3-phosphate dehydrogenase on reduced diphosphopyridine nucleotide. J Biol Chem 208:799–811
5. Marbaix AY, Noel G, Detroux AM, Vertommen D, Van Schaftingen E, Linster CL (2011) Extremely conserved ATP- or ADP-dependent enzymatic system for nicotinamide nucleotide repair. J Biol Chem 286:41246–41252
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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. De novo mutation of NAXE (APOAIBP)-related early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1: A case report;World Journal of Clinical Cases;2023-05-16
4. Nuclear Mitochondrial Disorder Due to a Variant in NAXE in Two Unrelated Indian Children;Indian Journal of Pediatrics;2023-02-11
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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