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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2022
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| 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 |