Congenital disorders of glycosylation

Annual Review of Genomics and Human Genetics

Volumn 2, Issue , 2001, Pages 129-151

  Jaeken, Jaak ^a   Matthijs, Gert ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

CDG; CDG x; N glycan; O glycan; Transferrin

Indexed keywords

DOLICHOL PHOSPHATE MANNOSE; DOLICHOL PHOSPHATE MANNOSE SYNTHASE 1; GALACTOSYLTRANSFERASE; GLUCOSIDASE; GLUCOSYLTRANSFERASE; GLYCAN; GLYCAN DERIVATIVE; GLYCOSAMINOGLYCAN; GUANOSINE DIPHOSPHATE FUCOSE; MANNOSE; MANNOSE PHOSPHATE ISOMERASE; MANNOSYLTRANSFERASE; N ACETYLGLUCOSAMINYLTRANSFERASE; PHOSPHOMANNOMUTASE; SIALIC ACID; SIALOTRANSFERRIN; TRANSFERRIN; UNCLASSIFIED DRUG;

BIOCHEMISTRY; BRAIN DISEASE; CHEMICAL BINDING; CLINICAL FEATURE; CONGENITAL DISORDER; CONGENITAL DISORDER OF GLYCOSYLATION; DISEASE MODEL; DISEASE SEVERITY; EHLERS DANLOS SYNDROME; FUNGAL GENETICS; GENETIC DISORDER; GENOTYPE; GLUCONEOGENESIS; GLYCOSAMINOGLYCAN METABOLISM; GLYCOSYLATION; GOLGI COMPLEX; HUMAN; ISOELECTRIC FOCUSING; KNOCKOUT GENE; MUCOLIPIDOSIS TYPE 2; PHENOTYPE; PROTEIN ASSEMBLY; PROTEIN BLOOD LEVEL; PROTEIN PROCESSING; REVIEW; SIALIC ACID STORAGE DISEASE; STRUCTURE ANALYSIS; SYNDROME DELINEATION; SYSTEMIC DISEASE;

CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; GLYCOSYLATION; HUMANS; POLYSACCHARIDES;

ANIMALIA;

EID: 0035778850     PISSN: 15278204     EISSN: None     Source Type: Book Series    
DOI: 10.1146/annurev.genom.2.1.129     Document Type: Review

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