Deficyt aktywności transaldolazy – Obraz kliniczny, patogeneza, diagnostyka

Lipiński, Patryk; Stradomska, Teresa; Tylki-Szymańska, Anna

doi:10.34763/devperiodmed.20182202.187196

Abstract

Deficyt aktywności transaldolazy należy do wrodzonych błędów metabolizmu na szlaku przemiany pentoz, który do tej pory rozpoznano i opisano u 33 pacjentów, w tym 4 z Polski.

W artykule przedstawiono obraz kliniczny, patogenezę i diagnostykę choroby. Autorzy przedstawili ponadto własną propozycję algorytmu diagnostyki deficytu transaldolazy.

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Deficyt aktywności transaldolazy – Obraz kliniczny, patogeneza, diagnostyka

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