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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Detaylı Bibliyografya
Yayımlandı:Ann Indian Acad Neurol
Asıl Yazarlar: Yoganathan, Sangeetha, Sudhakar, Sniya Valsa, Arunachal, Gautham, Thomas, Maya, Subramanian, Annadurai, George, Renu, Danda, Sumita
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Medknow Publications & Media Pvt Ltd 2017
Konular:
Short Communication
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5341272/
https://ncbi.nlm.nih.gov/pubmed/28298846
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0972-2327.199907
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