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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Detalles Bibliográficos
Autores principales: Yoganathan, Sangeetha, Sudhakar, Sniya Valsa, Arunachal, Gautham, Thomas, Maya, Subramanian, Annadurai, George, Renu, Danda, Sumita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2017
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5341272/
https://www.ncbi.nlm.nih.gov/pubmed/28298846
http://dx.doi.org/10.4103/0972-2327.199907

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5341272/
https://www.ncbi.nlm.nih.gov/pubmed/28298846
http://dx.doi.org/10.4103/0972-2327.199907

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