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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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Hlavní autoři: Rozil Gandhi, Ritu Kakkar, Sajeev Rajan, Rashmi Bhangale, Shrinivas Desai
Médium: Artigo
Jazyk:Inglês
Vydáno: Wiley 2012-01-01
Edice:Case Reports in Radiology
On-line přístup:http://dx.doi.org/10.1155/2012/684309
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