Matches in DBpedia 2016-04 for { <http://dbpedia.org/resource/Congenital_disorder_of_glycosylation> ?p ?o }
- Congenital_disorder_of_glycosylation abstract "A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome) is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is deficient or defective. Congenital disorders of glycosylation are sometimes known as CDG syndromes. They often cause serious, sometimes fatal, malfunction of several different organ systems (especially the nervous system, muscles, and intestines) in affected infants. The most common subtype is CDG-Ia (also referred to as PMM2-CDG) where the genetic defect leads to the loss of phosphomannomutase 2, the enzyme responsible for the conversion of mannose-6-phosphate into mannose-1-phosphate.".
- Congenital_disorder_of_glycosylation icd10 "E77.8".
- Congenital_disorder_of_glycosylation icd9 "271.8".
- Congenital_disorder_of_glycosylation omim "212065".
- Congenital_disorder_of_glycosylation wikiPageExternalLink www.cdgs.com.
- Congenital_disorder_of_glycosylation wikiPageExternalLink NBK1110.
- Congenital_disorder_of_glycosylation wikiPageExternalLink br.fcgi?book=gene&part=cdg.
- Congenital_disorder_of_glycosylation wikiPageExternalLink 212065,601785.
- Congenital_disorder_of_glycosylation wikiPageID "191510".
- Congenital_disorder_of_glycosylation wikiPageLength "31187".
- Congenital_disorder_of_glycosylation wikiPageOutDegree "238".
- Congenital_disorder_of_glycosylation wikiPageRevisionID "704836628".
- Congenital_disorder_of_glycosylation wikiPageWikiLink ALG1.
- Congenital_disorder_of_glycosylation wikiPageWikiLink ALG11.
- Congenital_disorder_of_glycosylation wikiPageWikiLink ALG12.
- Congenital_disorder_of_glycosylation wikiPageWikiLink ALG13.
- Congenital_disorder_of_glycosylation wikiPageWikiLink ALG14.
- Congenital_disorder_of_glycosylation wikiPageWikiLink ALG2.
- Congenital_disorder_of_glycosylation wikiPageWikiLink ALG3.
- Congenital_disorder_of_glycosylation wikiPageWikiLink ALG6.
- Congenital_disorder_of_glycosylation wikiPageWikiLink ALG8.
- Congenital_disorder_of_glycosylation wikiPageWikiLink ALG9.
- Congenital_disorder_of_glycosylation wikiPageWikiLink ATP6V0A2.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Asparagine.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Ataxia.
- Congenital_disorder_of_glycosylation wikiPageWikiLink B4GALT1.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Biological_system.
- Congenital_disorder_of_glycosylation wikiPageWikiLink COG1.
- Congenital_disorder_of_glycosylation wikiPageWikiLink COG4.
- Congenital_disorder_of_glycosylation wikiPageWikiLink COG5.
- Congenital_disorder_of_glycosylation wikiPageWikiLink COG6.
- Congenital_disorder_of_glycosylation wikiPageWikiLink COG7.
- Congenital_disorder_of_glycosylation wikiPageWikiLink COG8.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Calnexin.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Calreticulin.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Carbohydrate.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Category:Glycoprotein_metabolism_disorders.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Category:Inborn_errors_of_metabolism.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Category:Membrane_transport_protein_disorders.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Category:Pediatrics.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Cerebellar_atrophy.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Cerebral_atrophy.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Chaperone_(protein).
- Congenital_disorder_of_glycosylation wikiPageWikiLink Cholesterol.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Coagulopathy.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Congenital_disorder.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Congenital_hyperinsulinism.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Cortical_visual_impairment.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Cytoplasm.
- Congenital_disorder_of_glycosylation wikiPageWikiLink DDOST.
- Congenital_disorder_of_glycosylation wikiPageWikiLink DPAGT1.
- Congenital_disorder_of_glycosylation wikiPageWikiLink DPM1.
- Congenital_disorder_of_glycosylation wikiPageWikiLink DPM2.
- Congenital_disorder_of_glycosylation wikiPageWikiLink DPM3.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Dehydrodolichyl_diphosphate_synthase.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Dolichol.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Dolichol_kinase.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Dolichol_monophosphate.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Dolichol_monophosphate_mannose.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Dolichyl-phosphate_beta-D-mannosyltransferase.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Dolichyl_beta-D-glucosyl_phosphate.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Dysmorphic_feature.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Dystroglycan.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Dystroglycanopathies.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Ehlers–Danlos_syndrome.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Electroretinography.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Electrospray_ionization.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Endoplasmic_reticulum.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Epileptic_seizure.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Failure_to_thrive.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Farnesol.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Fat_pad.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Flippase.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Fructose_6-phosphate.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Fucose.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Fucosylation.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Fukutin.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Fukutin-related_protein.
- Congenital_disorder_of_glycosylation wikiPageWikiLink GCS1.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Galactosylation.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Galactosyltransferase.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Gastrointestinal_tract.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Gene.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Glucosyltransferase.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Glycoprotein.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Glycoside_hydrolase.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Glycosylation.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Glycosyltransferase.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Golgi_apparatus.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Guanosine_diphosphate_mannose.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Hereditary_multiple_exostoses.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Hormone.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Hyperinsulinemic_hypoglycemia.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Inborn_error_of_metabolism.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Infantile_esotropia.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Intracellular.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Inverted_nipple.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Isoelectric_focusing.
- Congenital_disorder_of_glycosylation wikiPageWikiLink LARGE.
- Congenital_disorder_of_glycosylation wikiPageWikiLink Lectin.