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Genodiagnostics of metabolic diseases

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Genodiagnostics of metabolic diseases

Description

 Генодиагностика метаболических заболеваний направлена на выявление генетических нарушений, вызывающих нарушения в ходе обменных процессов. Заболевания обмена веществ обычно связаны с дефицитом фермента и накоплением в тканях различных токсичных соединений, которые мешают функционированию организма. Наследственные нарушения обмена веществ охватывают обширную группу патологий, включая болезнь Краббе, болезнь Ниманна-Пика, Тея-Сакса, Фабри, гипероксалурию.
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