2 citations
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October 2018 in “The journal of pediatrics/The Journal of pediatrics” This case report identified a 4-month-old boy with Menkes disease, a neurodegenerative disorder of copper metabolism, noting symptoms like recurrent seizures, developmental delay, and specific physical characteristics, confirmed by genetic sequencing showing a pathogenic ATP7A mutation and low serum copper and ceruloplasmin levels.
16 citations
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June 1983 in “Journal of Neurochemistry” This study found that copper injections increased dopamine-β-hydroxylase activity in the brains of mottled mice, an animal model for Menkes' syndrome.
15 citations
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April 2007 in “Journal of child neurology” This case report describes an 11-month-old boy with Menkes disease, highlighting symptoms such as developmental delays and poor therapeutic response due to significant brain and vascular abnormalities.
18 citations
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January 1977 in “Annals of Nutrition and Metabolism” This article reviews inherited mineral and trace element disturbances and reports no clinical results; it highlights conditions like hypomagnesaemia and acrodermatitis enteropathica linked to impaired nutrient absorption.
1 citations
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December 2023 in “Curēus” This study observed that five out of fourteen individuals aged 13-16 years, who were homozygous for the p.C282Y mutation related to hemochromatosis, had increased liver and phlebotomy-mobilized iron levels.