Classification

 congenital disorder of glycosylation type I (CDG-I)

• congenital disorder of glycosylation type Ia (CDG-Ia)
• congenital disorder of glycosylation type Ib (CDG-Ib) (#12872847#)

References

 Grewal PK, Hewitt JE. Glycosylation defects: a new mechanism for muscular dystrophy? Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R259-64. PMID: #12925572#

 Aebi M, Hennet T. Congenital disorders of glycosylation: genetic model systems lead the way. Trends Cell Biol. 2001 Mar;11(3):136-41. PMID: #11306275#

 Aebi M, Helenius A, Schenk B, Barone R, Fiumara A, Berger EG, Hennet T, Imbach T, Stutz A, Bjursell C, Uller A, Wahlstrom JG, Briones P, Cardo E, Clayton P, Winchester B, Cormier-Dalre V, de Lonlay P, Cuer M, Dupre T, Seta N, de Koning T, Dorland L, de Loos F, Kupers L, et al. Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS. Glycoconj J. 1999 Nov;16(11):669-71. PMID: #11003549#