Abstract

Case Report

Severe Infantile Transaldolase deficiency: A case report

Khaled Alqoaer*, Ziad Asaad and Maisa Halabi

Published: 24 July, 2019 | Volume 2 - Issue 1 | Pages: 001-003

Transaldolase TALDO deficiency is a rare autosomal recessive disorder of the pentose phosphate pathway. It has variable presentations with poor outcome when present early in life. We present a young Saudi infant with a fatal early presentation of TALD deficiency.

Read Full Article HTML DOI: 10.29328/journal.japch.1001003 Cite this Article Read Full Article PDF

Keywords:

Transaldolase; Pentose pathway

References

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Figures:

Figure 1

Figure 1

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