Diseases associated with glycosylation precursor biosynthesis

Stable Identifier
R-HSA-5609975
Type
Pathway
Species
Homo sapiens
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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
17506657 Congenital disorders of glycosylation: a rapidly expanding disease family

Jaeken, J, Matthijs, G

Annu Rev Genomics Hum Genet 2007
25840006 Neurological Aspects of Human Glycosylation Disorders

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

Annu. Rev. Neurosci. 2015
Participants
Participates
Disease
Name Identifier Synonyms
congenital disorder of glycosylation DOID:5212 carbohydrate-deficient glycoprotein syndrome
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