Essential fructosuria

Stable Identifier
R-HSA-5657562
DOI
10.3180/r-hsa-5657562.1
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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Essential fructosuria
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Deficiencies in KHK (ketohexokinase) are associated with essential fructosuria (Bonthron et al. 1994).
Literature References
PubMed ID Title Journal Year
7833921 Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase)

Donaldson, IA, Brady, N, Steinmann, B, Bonthron, DT

Hum Mol Genet 1994
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Events
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as an event of
Disease
Name Identifier Synonyms
carbohydrate metabolic disorder DOID:2978 disorder of carbohydrate transport and metabolism, inborn errors of carbohydrate metabolism, inborn carbohydrate metabolism disorder
Authored
D'Eustachio, P  (2015-01-29)
Reviewed
Tolan, DR  (2015-02-17)
Timson, DJ  (2015-02-17)
Jassal, B  (2015-01-29)
Created
D'Eustachio, P  (2014-12-13)
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