References
- 1
Burda P, Borsig L, de Rijk-van Andel J, Wevers R, Jaeken J, Carchon H. et al .
A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency
in glycosylation of the dolichol-linked oligosaccharide.
J Clin Invest.
1998;
102
647-652
- 2
Dröscher A.
Camillo Golgi and the discovery of the Golgi apparatus.
Histochem Cell Biol.
1998;
109
425-430
- 3
Grünewald S, Huyben K, de Jong J GN, Smeitink J AM, Rubio E, Boers G HJ. et al .
β-Trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation
defects in brain.
Biochim Biophys Acta.
1999;
1455
54-60
- 4
Grünewald S, Imbach T, Hujben H, Rubio-Gozalbo M E, Verrips A, de Klerk J BC. et al
.
Clinical and biochemical characteristics of Congenital Disorder of Glycosylation:
CDG-Ic, the first recognized human ER defect in N-glycan synthesis.
Ann Neurol.
(in press);
- 5
Imbach T, Burda P, Kuhnert P, Wevers R, Aebi M, Berger E G. et al .
A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes
carbohydrate-deficient glycoprotein syndrome type-Ic.
Proc Natl Acad Sci USA.
1999;
96
6982-6987
- 6
Imbach T, Schenk B, Schollen E, Burda P, Stutz A, Grünewald S. et al .
Deficiency of dolichol-phosphate-mannose synthase 1 causes congenital disorder of
glycosylation type Ie.
J Clin Invest.
2000;
105, 2
233-239
- 7
Jaeken J, Vanderschueren-Lodeweyckx M, Casaer P, Snoeck L, Corbeel L, Eggermont E.
et al .
Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and
GH levels, partial TBG-deficiency, increased serum arylsulfatase A and increased CSF
protein: a new syndrome?.
Pediatr Res.
1980;
14
179
- 8
Jaeken J, Casaer P.
Carbohydrate-deficient glycoconjugate (CDG) syndromes: a new chapter of neuropaediatrics.
Eur J Paed Neurol.
1997;
2/3
61-66
- 9
Jaeken J, Matthijs G, Saudubray J M, Dionisi-Vici C, Bertini E, de Lonlay P. et al
.
Phosphomannose-isomerase deficiency: A carbohydrate-deficient glycoprotein syndrome
with hepatic-intestinal presentation.
Am J Hum Genet.
1998;
62
1535-1539
- 10
Kim S, Westphal V, Srikrishna G, Metha D P, Peterson S, Filiano J. et al .
Dolichol phosphate mannose synthase (DPM1) define congenital disorder of glycosylation
Ie (CDG-Ie).
J Clin Invest.
2000;
105, 2
191-198
- 11
Körner C, Knauer R, Holzbach U, Hanefeld F, Lehle L, von Figura K.
Carbohydrate-deficient glycoprotein syndrome type V: Deficiency of dolichol-P-Glc:Man9GlcNAc2-PP-dolichol glucosyltransferase.
Proc Natl Acad Sci USA.
1998;
95
13 200-13 205
- 12
Körner C, Knauer R, Stephani U, Marquardt T, Lehle L, von Figura K.
Carbohydrate-deficient glycoprotein syndrome type IV: deficiency of dolichol-P-Man:
Man5GlcNAc2-PP-dolichyl mannosyltransferase.
EMBO J.
2000;
18
6816-6822
- 13
Kornfeld R, Kornfeld S.
Assembly of asparagine-linked oligosaccharides.
Anu Rev Biochem.
1985;
54
631-664
- 14
Matthijs G, Schollen E, Pardon E, Veigha-Da-Cunha M, Jaeken J, Cassiman J J. et al
.
Mutations in PMM2, a phosphomannomutase-deficient glycoprotein type I syndrome (Jaeken
syndrome).
Nat Genet.
1997;
16
88-92
- 15
Tan J, Dunn K, Jaeken J, Schachter H.
Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate
deficient glycoprotein syndrome type II, an autosomal recessive disease with defective
brain development.
Am J Hum Genet.
1996;
59
810-817
- 16
Van Schaftingen E, Jaeken J.
Phosphomannomutase deficiency is a cause of carbohydrate deficient glycoprotein syndrome
type I.
FEBS Lett.
1995;
377
318-320
- 17
Varki A.
Biological roles of oligosaccharides: all theories are correct.
Glycobiology.
1993;
3
97-130
Stephanie Grünewald and Gert Matthijs
Center for Human Genetics
U. Z. Gasthuisberg
Herestraat 49
3000 Leuven
Belgium
Email: E-mail: stephanie.gruenewald@med.kuleuven.ac.be