В статье представлены особенности диагностики и динамического наблюдения за пациентом с болезнью Менкеса, редкого нарушения обмена меди, обусловленного мутацией в гене ATP7A. Проанализированы данные научной литературы на тему эпидемиологии, этиологии, патогенеза данного заболевания, а также рассмотрены основные принципы терапии и исходы болезни.
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Всероссийское общество орфанных заболеваний – редкие болезни – болезнь Менкеса. / http://www.rare-diseases.ru/rare-diseases/ encyclopedia diseases/123-2010-07-03-18-28-23.http://www.rare-diseases.ru/rare-diseases/encyclopediadiseases/123-2010-07-03-18-28-23
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