Document Detail


Triose phosphate isomerase deficiency: report of a family.
MedLine Citation:
PMID:  3729826     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Triose phosphate isomerase (TPI) deficiency is associated with a syndrome of congenital non-spherocytic haemolytic anaemia, mental subnormality, motor impairment, growth failure and cardiac failure. The deficiency state is characterized by moderately reduced red cell TPI activity, and marked instability of the abnormal enzyme to heat. The clinical features of an affected child are described, and some problems in the laboratory diagnosis delineated.
Authors:
A C Clark; M A Szobolotzky
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Australian paediatric journal     Volume:  22     ISSN:  0004-993X     ISO Abbreviation:  Aust Paediatr J     Publication Date:  1986 May 
Date Detail:
Created Date:  1986-07-29     Completed Date:  1986-07-29     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  15420340R     Medline TA:  Aust Paediatr J     Country:  AUSTRALIA    
Other Details:
Languages:  eng     Pagination:  135-7     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Carbohydrate Epimerases / deficiency*
Erythrocytes / enzymology
Female
Heterozygote Detection
Humans
Infant, Newborn
Male
Pedigree
Thalassemia / genetics*
Triose-Phosphate Isomerase / deficiency*
Chemical
Reg. No./Substance:
EC 5.1.3.-/Carbohydrate Epimerases; EC 5.3.1.1/Triose-Phosphate Isomerase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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