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Triose phosphate-isomerase deficiency

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Name:
Triose phosphate-isomerase deficiency
Description:
Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.
ORPHAcode:
868
XREF(s):
Orphanet
OMIM
ICD-10
Analyte(s):
TPI1
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14