Successful Liver Transplantation in Two Polish Brothers with Transaldolase Deficiency

• Main Authors: Marek Stefanowicz (Author), Maria Janowska (Author), Joanna Pawłowska (Author), Anna Tylki-Szymańska (Author), Adam Kowalski (Author), Marek Szymczak (Author), Piotr Kaliciński (Author), Irena Jankowska (Author)
• Format: Book
• Published: MDPI AG, 2021-08-01T00:00:00Z.
• Subjects: article
• Online Access: 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...