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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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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

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