Severe Infantile Transaldolase deficiency: A case report
Published on: 24th July, 2019
OCLC Number/Unique Identifier: 8207287340
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.
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