Successful Liver Transplantation in Two Polish Brothers with Transaldolase Deficiency

• Hoofdauteurs: Marek Stefanowicz (Auteur), Maria Janowska (Auteur), Joanna Pawłowska (Auteur), Anna Tylki-Szymańska (Auteur), Adam Kowalski (Auteur), Marek Szymczak (Auteur), Piotr Kaliciński (Auteur), Irena Jankowska (Auteur)
• Formaat: Boek
• Gepubliceerd in: MDPI AG, 2021-08-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

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...