| Triose phosphate isomerase deficiency: report of a family. | |
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MedLine Citation:
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PMID: 3729826 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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A C Clark; M A Szobolotzky |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Australian paediatric journal Volume: 22 ISSN: 0004-993X ISO Abbreviation: Aust Paediatr J Publication Date: 1986 May |
Date Detail:
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Created Date: 1986-07-29 Completed Date: 1986-07-29 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 15420340R Medline TA: Aust Paediatr J Country: AUSTRALIA |
Other Details:
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Languages: eng Pagination: 135-7 Citation Subset: IM |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Carbohydrate Epimerases
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deficiency* Erythrocytes / enzymology Female Heterozygote Detection Humans Infant, Newborn Male Pedigree Thalassemia / genetics* Triose-Phosphate Isomerase / deficiency* |
| Chemical | |
Reg. No./Substance:
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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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