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Inborn errors of copper metabolism

Wilson disease, Menkes disease, occipital horn syndrome, and X-linked distal hereditary motor neuropathy are genetic disorders of copper metabolism that span a broad spectrum of neurological dysfunction (Table 180.1). The occurrence of these disorders indicates the fundamental importance of ATP7A an...

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Autor principal: KALER, STEPHEN G.
Format: Artigo
Idioma:Inglês
Publicat: 2013
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4214864/
https://ncbi.nlm.nih.gov/pubmed/23622398
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/B978-0-444-59565-2.00045-9
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