Article
Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small In-frame deletion.
Biochemical and molecular medicine - 1 Feb 1996
Kaler S G, Das S, Levinson B, Goldstein D S, Holmes C S, Patronas N J, Packman S, Gahl W A
Abstract excerpt
Classical Menkes disease is a fatal X-linked neurodegenerative disorder caused by defects in a gene (MNK) that encodes a copper-transporting ATPase. Treatment with parenteral copper has been proposed for patients identified before symptoms develop. We recently described suboptimal outcomes despite early copper replacement in two classical Menkes patients whose mutation predicts little if any functional copper...
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