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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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| Publicado no: | Ann Indian Acad Neurol |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Medknow Publications & Media Pvt Ltd
2017
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| Assuntos: | |
| Acesso em linha: | 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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