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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...
Autores principales: | Gandhi, Rozil, Kakkar, Ritu, Rajan, Sajeev, Bhangale, Rashmi, Desai, Shrinivas |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3420100/ https://www.ncbi.nlm.nih.gov/pubmed/22919529 http://dx.doi.org/10.1155/2012/684309 |
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