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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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Autors principals: Tchan, M. C., Wilcken, B., Christodoulou, J.
Format: Artigo
Idioma:Inglês
Publicat: Springer Berlin Heidelberg 2012
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Accés en línia: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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