Transaldolase deficiency

Posted by & filed under Part 07: CARBOHYDRATES.

Mol Genet Metab. 2008 Jun;94(2):255-8. Epub 2008 Mar 10.

Transaldolase deficiency in a two-year-old boy with cirrhosis.

Wamelink MM, Struys EA, Salomons GS, Fowler D, Jakobs C, Clayton PT.

In this brief communication, the authors describe a new patient with transaldolase deficiency, with hematological, renal and hepatic manifestations. They also review previously reported cases of this recently described condition.

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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator

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