Menkes disease – a multidisciplinary approach for a proper evolution
نویسندگان
چکیده
منابع مشابه
Menkes disease: what a multidisciplinary approach can do
Disorders of copper homeostasis are currently recognized across the life span. Their recognition and links to human disease have spanned several decades, beginning with the recognition of a degenerative disorder in the offspring of sheep grazing in copper-deficient pastures, through to the description of infants suffering from a progressive neurodegenerative disorder characterized by epileptic ...
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15 صفحه اولMenkes kinky hair disease (Menkes syndrome). A case report.
Menkes disease (MD) is a rare genetic neurodegenerative disorder. It is caused by a mutation in the ATP7A gene, which codes for the copper-transporting ATPase in the cell organelles. Dysfunction of many copper-dependent enzymes results in low concentrations of copper in some tissues and accumulation of copper in others. We report on a boy that at the age of 2 months presented with encephalopath...
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ژورنال
عنوان ژورنال: Medical Image Database
سال: 2019
ISSN: 2602-0459,2602-0459
DOI: 10.33695/mid.v2i1.24