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De novo mutation of NAXE (APOAIBP)-related early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1: A case report

BACKGROUND: Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1) is a rare autosomal recessive severe neurometabolic disease. The aim of this study was to investigate the clinical characteristics and genetic pathogenicity of PEBEL1 caused by rare NAXE (or APO...

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Detalles Bibliográficos
Autores principales:	Ding, Le, Huang, Ting-Ting, Ying, Guo-Huan, Wang, Shang-Yu, Xu, Hai-Feng, Qian, Hao, Rahman, Faiza, Lu, Xiao-Peng, Guo, Hu, Zheng, Guo, Zhang, Gang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Baishideng Publishing Group Inc 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10237136/ https://www.ncbi.nlm.nih.gov/pubmed/37274027 http://dx.doi.org/10.12998/wjcc.v11.i14.3340

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