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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Detalles Bibliográficos
Autores principales: Gandhi, Rozil, Kakkar, Ritu, Rajan, Sajeev, Bhangale, Rashmi, Desai, Shrinivas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2012
Materias:
Case Report
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

Internet

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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