Successful Liver Transplantation in Two Polish Brothers with Transaldolase Deficiency

Transaldolase deficiency (TALDO; OMIM 606003) is a rare inborn autosomal-recessive error of the pentose phosphate pathway. It is an early-onset multisystem disease with dysmorphic features, anaemia, coagulopathy, thrombocytopenia, tubulopathy, hepatosplenomegaly and end-stage liver disease. We prese...

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Bibliographic Details
Main Authors: Marek Stefanowicz, Maria Janowska, Joanna Pawłowska, Anna Tylki-Szymańska, Adam Kowalski, Marek Szymczak, Piotr Kaliciński, Irena Jankowska
Format: Article
Language:English
Published: MDPI AG 2021-08-01
Series:Children
Subjects:
Online Access:https://www.mdpi.com/2227-9067/8/9/746