PMID- 12409504
OWN - NLM
STAT- MEDLINE
DCOM- 20030331
LR  - 20220316
IS  - 0031-3998 (Print)
IS  - 0031-3998 (Linking)
VI  - 52
IP  - 5
DP  - 2002 Nov
TI  - Congenital disorders of glycosylation: a review.
PG  - 618-24
AB  - Congenital disorders of glycosylation (CDGs) are a rapidly growing group of 
      inherited disorders caused by defects in the synthesis and processing of the 
      asparagine(ASN)-linked oligosaccharides of glycoproteins. The first CDG patients 
      were described in 1980. Fifteen years later, a phosphomannomutase deficiency was 
      found as the basis of the most frequent type, CDG-Ia. In recent years several 
      novel types have been identified. The N-glycosylation pathway is highly conserved 
      from yeast to human, and the rapid progress in this field can largely be 
      attributed to the systematic application of the knowledge of yeast mutants. Up to 
      now, eight diseases have been characterized, resulting from enzyme or transport 
      defects in the cytosol, endoplasmic reticulum, or Golgi compartment. CDGs affect 
      all organs and particularly the CNS, except for CDG-Ib, which is mainly a 
      hepatic-intestinal disease.
FAU - Grunewald, Stephanie
AU  - Grunewald S
AD  - Children's University Hospital Essen, 45122 Essen, Germany.
FAU - Matthijs, Gert
AU  - Matthijs G
FAU - Jaeken, Jaak
AU  - Jaeken J
LA  - eng
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Pediatr Res
JT  - Pediatric research
JID - 0100714
RN  - 0 (Glycoconjugates)
RN  - 0 (Glycoproteins)
RN  - 0 (Oligosaccharides)
RN  - 0 (Saccharomyces cerevisiae Proteins)
RN  - 7006-34-0 (Asparagine)
RN  - EC 2.4.- (Glycosyltransferases)
SB  - IM
MH  - Animals
MH  - Asparagine/metabolism
MH  - Carbohydrate Metabolism, Inborn 
      Errors/classification/diagnosis/enzymology/*genetics
MH  - Endoplasmic Reticulum/enzymology
MH  - Glycoconjugates/metabolism
MH  - Glycoproteins/metabolism
MH  - *Glycosylation
MH  - Glycosyltransferases/*deficiency
MH  - Golgi Apparatus/metabolism
MH  - Humans
MH  - Isoelectric Focusing
MH  - Models, Biological
MH  - Oligosaccharides/metabolism
MH  - Protein Processing, Post-Translational/*genetics
MH  - Saccharomyces cerevisiae/genetics/metabolism
MH  - Saccharomyces cerevisiae Proteins/metabolism
MH  - Syndrome
RF  - 33
EDAT- 2002/11/01 04:00
MHDA- 2003/04/01 05:00
CRDT- 2002/11/01 04:00
PHST- 2002/11/01 04:00 [pubmed]
PHST- 2003/04/01 05:00 [medline]
PHST- 2002/11/01 04:00 [entrez]
AID - 10.1203/00006450-200211000-00003 [doi]
PST - ppublish
SO  - Pediatr Res. 2002 Nov;52(5):618-24. doi: 10.1203/00006450-200211000-00003.