Transaldolase Deficiency: Liver Cirrhosis Associated with a New Inborn Error in the Pentose Phosphate Pathway

This article describes the first patient with a deficiency of transaldolase (TALDO1 [E.C.2.2.1.2]). Clinically, the patient presented with liver cirrhosis and hepatosplenomegaly during early infancy. In urine and plasma, elevated concentrations of ribitol, d-arabitol, and erythritol were found. By i...

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Main Authors: Verhoeven, Nanda M., Huck, Jojanneke H. J., Roos, Birthe, Struys, Eduard A., Salomons, Gajja S., Douwes, Adriaan C., van der Knaap, Marjo S., Jakobs, Cornelis
Format: Artigo
Jezik:Inglês
Izdano: The American Society of Human Genetics 2001
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Articles
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1226089/
https://ncbi.nlm.nih.gov/pubmed/11283793
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