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Deficyt aktywności transaldolazy - Obraz kliniczny, patogeneza, diagnostyka.
Journal of mother and child. 2021 January 30
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.
Transaldolase deficiency is a rare inborn autosomal recessive error of the pentose phosphate pathway that, to date, has been diagnosed in 33 patients, including 4 from Poland.The aim of this manuscript was to present the clinical presentation, pathogenesis and diagnostic process of transaldolase deficiency. The authors also present a diagnostic algorithm of transaldolase deficiency.
Transaldolase deficiency is a rare inborn autosomal recessive error of the pentose phosphate pathway that, to date, has been diagnosed in 33 patients, including 4 from Poland.The aim of this manuscript was to present the clinical presentation, pathogenesis and diagnostic process of transaldolase deficiency. The authors also present a diagnostic algorithm of transaldolase deficiency.
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