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Almost misdiagnosed Menkes disease: A case report

BACKGROUND: Menkes disease is a disorder of copper metabolism and which follows a progressive degeneration of brain. It is a rare X-linked recessive disorder that results from mutations in ATP7A gene. The early diagnosis of Menkes disease is critical to patients’ prognosis. CASE PRESENTATION: We rep...

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Detalles Bibliográficos
Autores principales: Guo, Yu, Xia, Wei, Peng, Xuehua, Shao, Jianbo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9026563/
https://www.ncbi.nlm.nih.gov/pubmed/35464712
http://dx.doi.org/10.1016/j.heliyon.2022.e09268