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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Bibliographische Detailangaben
Veröffentlicht in:Ann Indian Acad Neurol
Hauptverfasser: Yoganathan, Sangeetha, Sudhakar, Sniya Valsa, Arunachal, Gautham, Thomas, Maya, Subramanian, Annadurai, George, Renu, Danda, Sumita
Format: Artigo
Sprache:Inglês
Veröffentlicht: Medknow Publications & Media Pvt Ltd 2017
Schlagworte:
Short Communication
Online Zugang: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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