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The Mild Form of Menkes Disease: A 34 Year Progress Report on the Original Case
Classical Menkes disease is a neurodegenerative disorder caused by mutations in the copper-transporting ATPase ATP7A gene which, when untreated, is usually fatal in early childhood. A mild form of Menkes disease was originally reported in 1981 and clinical progress of the patient at 10 years describ...
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Springer Berlin Heidelberg
2012
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| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3565640/ https://ncbi.nlm.nih.gov/pubmed/23430551 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2012_183 |
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