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...

Descripción completa

Detalles Bibliográficos
Autores principales: Stefanowicz, Marek, Janowska, Maria, Pawłowska, Joanna, Tylki-Szymańska, Anna, Kowalski, Adam, Szymczak, Marek, Kaliciński, Piotr, Jankowska, Irena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8469686/
https://www.ncbi.nlm.nih.gov/pubmed/34572178
http://dx.doi.org/10.3390/children8090746

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8469686/
https://www.ncbi.nlm.nih.gov/pubmed/34572178
http://dx.doi.org/10.3390/children8090746

Ejemplares similares