Menkes disease and response to copper histidine: An Indian case series

Menkes disease and response to copper histidine: An Indian case series

Background: Menkes disease (MD) is an X-linked recessive neurodegenerative disorder caused by mutations in ATP7A gene. Depending on the residual ATP7A activity, manifestation may be classical MD, occipital horn syndrome, or distal motor neuropathy. Neurological sparing is expected in female carriers...

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Bibliographic Details
Main Authors: Sangeetha Yoganathan, Sniya Valsa Sudhakar, Gautham Arunachal, Maya Thomas, Annadurai Subramanian, Renu George, Sumita Danda
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2017-01-01
Series:Annals of Indian Academy of Neurology
Subjects:
ATP7A
copper histidine
Menkes disease
X-linked recessive
Online Access:http://www.annalsofian.org/article.asp?issn=0972-2327;year=2017;volume=20;issue=1;spage=62;epage=68;aulast=Yoganathan

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http://www.annalsofian.org/article.asp?issn=0972-2327;year=2017;volume=20;issue=1;spage=62;epage=68;aulast=Yoganathan

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