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- 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 diseasesdb "2012".
- 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 wikiPageRevisionID "605048593".
- Congenital_disorder_of_glycosylation diseasesdb "2012".
- Congenital_disorder_of_glycosylation hasPhotoCollection Congenital_disorder_of_glycosylation.
- Congenital_disorder_of_glycosylation icd "271.8".
- Congenital_disorder_of_glycosylation icd "E77.8".
- Congenital_disorder_of_glycosylation name "Congenital disorders of glycosylation".
- Congenital_disorder_of_glycosylation omim "212065".
- Congenital_disorder_of_glycosylation wordnet_type synset-disease-noun-1.
- Congenital_disorder_of_glycosylation subject Category:Glycoprotein_metabolism_disorders.
- Congenital_disorder_of_glycosylation subject Category:Inborn_errors_of_metabolism.
- Congenital_disorder_of_glycosylation subject Category:Membrane_transport_protein_disorders.
- Congenital_disorder_of_glycosylation subject Category:Pediatrics.
- Congenital_disorder_of_glycosylation type Abstraction100002137.
- Congenital_disorder_of_glycosylation type Act100030358.
- Congenital_disorder_of_glycosylation type Attribute100024264.
- Congenital_disorder_of_glycosylation type Condition113920835.
- Congenital_disorder_of_glycosylation type Disease114070360.
- Congenital_disorder_of_glycosylation type Disorder114052403.
- Congenital_disorder_of_glycosylation type Event100029378.
- Congenital_disorder_of_glycosylation type GlycoproteinMetabolismDisorders.
- Congenital_disorder_of_glycosylation type IllHealth114052046.
- Congenital_disorder_of_glycosylation type Illness114061805.
- Congenital_disorder_of_glycosylation type InbornErrorsOfMetabolism.
- Congenital_disorder_of_glycosylation type MembraneTransportProteinDisorders.
- Congenital_disorder_of_glycosylation type Mistake100070965.
- Congenital_disorder_of_glycosylation type Nonaccomplishment100066216.
- Congenital_disorder_of_glycosylation type PathologicalState114051917.
- Congenital_disorder_of_glycosylation type PhysicalCondition114034177.
- Congenital_disorder_of_glycosylation type PsychologicalFeature100023100.
- Congenital_disorder_of_glycosylation type State100024720.
- Congenital_disorder_of_glycosylation type YagoPermanentlyLocatedEntity.
- Congenital_disorder_of_glycosylation type Disease.
- Congenital_disorder_of_glycosylation type AilmentCondition.
- Congenital_disorder_of_glycosylation type Situation.
- Congenital_disorder_of_glycosylation comment "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.".
- Congenital_disorder_of_glycosylation label "Congenital Disorder of Glycosylation".
- Congenital_disorder_of_glycosylation label "Congenital disorder of glycosylation".
- Congenital_disorder_of_glycosylation label "Defectos congénitos de la glicosilación".
- Congenital_disorder_of_glycosylation sameAs Congenital_Disorder_of_Glycosylation.
- Congenital_disorder_of_glycosylation sameAs Defectos_congénitos_de_la_glicosilación.
- Congenital_disorder_of_glycosylation sameAs m.01b5yl.
- Congenital_disorder_of_glycosylation sameAs Q1125675.
- Congenital_disorder_of_glycosylation sameAs Q1125675.
- Congenital_disorder_of_glycosylation sameAs 192.
- Congenital_disorder_of_glycosylation sameAs 260.
- Congenital_disorder_of_glycosylation sameAs Congenital_disorder_of_glycosylation.
- Congenital_disorder_of_glycosylation wasDerivedFrom Congenital_disorder_of_glycosylation?oldid=605048593.
- Congenital_disorder_of_glycosylation isPrimaryTopicOf Congenital_disorder_of_glycosylation.
- Congenital_disorder_of_glycosylation name "Congenital disorders of glycosylation".