About: Transaldolase deficiency

An Entity of Type: disease, from Named Graph: http://dbpedia.org, within Data Space: dbpedia.org

Transaldolase deficiency is a disease characterised by abnormally low levels of the transaldolase enzyme. It is a metabolic enzyme involved in the pentose phosphate pathway. It is caused by mutation in the transaldolase gene (TALDO1). It was first described by Verhoeven et al. in 2001.

Property	Value
dbo:abstract	Transaldolase deficiency is a disease characterised by abnormally low levels of the transaldolase enzyme. It is a metabolic enzyme involved in the pentose phosphate pathway. It is caused by mutation in the transaldolase gene (TALDO1). It was first described by Verhoeven et al. in 2001. (en)
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dbo:wikiPageWikiLink	dbr:Ribose_5-phosphate dbr:Fructose_6-phosphate dbr:Glucose_6-phosphate dbr:Liver_cirrhosis dbr:Pentose_phosphate_pathway dbc:Inborn_errors_of_carbohydrate_metabolism dbr:Transaldolase dbr:Cutis_laxa dbr:Glucose-6-phosphate_dehydrogenase_deficiency dbr:Hepatosplenomegaly dbr:Coagulopathy dbr:D-erythrose_4-phosphate dbr:D-glyceraldehyde_3-phosphate dbr:Inborn_error_of_metabolism dbr:Sedoheptulose_7-phosphate dbr:Polyol dbr:Spermatozoa dbr:Thrombocytopenia dbr:Polyols dbr:Antimongoloid_slant dbr:File:Transaldolase_annotated_PENTOSE_PHOSPHATE_Pathway.gif
dbp:caption	The structure of the Tranaldolase enzyme. (en)
dbp:meshid	563207.0
dbp:name	Transaldolase deficiency (en)
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rdfs:comment	Transaldolase deficiency is a disease characterised by abnormally low levels of the transaldolase enzyme. It is a metabolic enzyme involved in the pentose phosphate pathway. It is caused by mutation in the transaldolase gene (TALDO1). It was first described by Verhoeven et al. in 2001. (en)
rdfs:label	Transaldolase deficiency (en)
owl:sameAs	freebase:Transaldolase deficiency http://www4.wiwiss.fu-berlin.de/diseasome/resource/diseases/1141 yago-res:Transaldolase deficiency wikidata:Transaldolase deficiency https://global.dbpedia.org/id/4wKTG
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foaf:name	Transaldolase deficiency (en)
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is foaf:primaryTopic of	wikipedia-en:Transaldolase_deficiency