Publications by authors named "Wei Teik Keng"
J Inherit Metab Dis
January 2019
Article Synopsis
- Transaldolase deficiency (TALDO-D) is a rare genetic disorder affecting the pentose phosphate pathway, first identified in 2001, with ongoing research focused on its symptoms and genetic links.*
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- A study involving 34 patients revealed that most exhibited symptoms early in life, such as growth issues and heart defects, while some had delayed onset of symptoms, including hormonal abnormalities.*
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- The findings provide insights for better patient management and family counseling, suggesting guidelines for diagnosis, treatment options, and understanding the disorder's mechanisms.*
