NAXE gene mutation-related progressive encephalopathy: A case report and literature review

RATIONALE: Progressive encephalopathy with brain edema and/or leukoencephalopathy-1 is an infantile, lethal neurometabolic disorder caused by a NAD(P)HX epimerase (NAXE) gene mutation. It is characterized by a fluctuating disease course with repeated episodes of improvement and regression. In this r...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2021
Materias:
6200
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8542128/
https://www.ncbi.nlm.nih.gov/pubmed/34678889
http://dx.doi.org/10.1097/MD.0000000000027548

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8542128/
https://www.ncbi.nlm.nih.gov/pubmed/34678889
http://dx.doi.org/10.1097/MD.0000000000027548

Ejemplares similares