Diseases associated with glycosylation precursor biosynthesis

Stable Identifier
R-HSA-5609975
DOI
10.3180/r-hsa-5609975.1
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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Diseases associated with glycosylation precursor biosynthesis
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Glycosylation diseases associated with the enzymes that mediate the biosynthesis of glycosylation precursors are curated in this section (Jaeken & Matthijs 2007, Freeze et al. 2015).
Literature References
PubMed ID Title Journal Year
25840006 Neurological Aspects of Human Glycosylation Disorders

Freeze, HH, Ng, BG, Eklund, EA, Patterson, MC

Annu. Rev. Neurosci. 2015
17506657 Congenital disorders of glycosylation: a rapidly expanding disease family

Matthijs, G, Jaeken, J

Annu Rev Genomics Hum Genet 2007
Participants
Events
Participates
as an event of
Disease
Name Identifier Synonyms
congenital disorder of glycosylation DOID:5212 carbohydrate-deficient glycoprotein syndrome
Authored
Jassal, B  (2014-07-18)
Reviewed
Spillmann, D  (2014-07-09)
Timson, DJ  (2015-02-25)
Created
Jassal, B  (2014-07-18)
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