HIGHLIGHTS
- who: Report and colleagues from the Turkey Turkey have published the paper: Review began 01/28/2023 Review ended 02/16/2023 Published 02/18/2023 u00a9 Copyright, in the Journal: (JOURNAL) of February/18,/2023
- what: The authors report a case of an eight-year-old female patient with TD that was associated with HPS.
SUMMARY
Eyaid`s syndrome or Transaldolase Deficiency (TD) is a rare autosomal recessive inborn error of metabolism, which is registered under phenotype MIM OMIM# 606003. The initial case of TD was described in 2001, by . . .
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