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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Ann Indian Acad Neurol
Päätekijät: Yoganathan, Sangeetha, Sudhakar, Sniya Valsa, Arunachal, Gautham, Thomas, Maya, Subramanian, Annadurai, George, Renu, Danda, Sumita
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Medknow Publications & Media Pvt Ltd 2017
Aiheet:
Short Communication
Linkit: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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