Цитруллинемия у новорожденного: клинический случай

Особое место в случаях внезапного ухудшения состояния новорожденного занимают наследственные болезни обмена веществ. Для ряда этих болезней разработаны методы терапии, и точная верификация диагноза крайне важна для выбора определенной тактики лечения. В условиях быстрого прогрессирования симптоматики это не всегда удается. Представляем клинический случай цитруллинемии, диагностированной в условиях Видновского перинатального центра.

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