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Menkes Kinky Hair Syndrome: A Rare Neurodegenerative Disease
Menkes kinky hair disease is a rare X-linked recessive disease nearly exclusively affecting males who present at 2-3 months of age due to abnormal functioning of copper-dependent enzymes due to deficiency of copper. Here, we describe a completely worked-up case of a 4-month-old male infant with very...
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| Autors principals: | , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Hindawi Publishing Corporation
2012
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3420100/ https://ncbi.nlm.nih.gov/pubmed/22919529 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2012/684309 |
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