-
1
-
-
0033333620
-
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: An updated nomenclature for CDG
-
Aebi M, Helenius A, Schenk B, et al. 1999. Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. Glycoconj J 16: 669-671.
-
(1999)
Glycoconj J
, vol.16
, pp. 669-671
-
-
Aebi, M.1
Helenius, A.2
Schenk, B.3
-
2
-
-
0035279221
-
Congenital disorders of glycosylation: Genetic model systems lead the way
-
Aebi M, Hennet T. 2001. Congenital disorders of glycosylation: genetic model systems lead the way. Trends Cell Biol 11: 136-141.
-
(2001)
Trends Cell Biol
, vol.11
, pp. 136-141
-
-
Aebi, M.1
Hennet, T.2
-
3
-
-
0027457737
-
Carbohydrate-deficient glycoprotein syndrome: Normal glycosylation in the fetus
-
Clayton P, Winchester B, Di Tomaso E, Young E, Keir G, Rodeck C. 1993. Carbohydrate-deficient glycoprotein syndrome: normal glycosylation in the fetus. Lancet 341: 956.
-
(1993)
Lancet
, vol.341
, pp. 956
-
-
Clayton, P.1
Winchester, B.2
Di Tomaso, E.3
Young, E.4
Keir, G.5
Rodeck, C.6
-
4
-
-
0037301070
-
Glycosylation defects in inherited muscle disease
-
Hewitt JE, Grewal PK. 2003. Glycosylation defects in inherited muscle disease. Cell Mol Life Sci 60: 251-258.
-
(2003)
Cell Mol Life Sci
, vol.60
, pp. 251-258
-
-
Hewitt, J.E.1
Grewal, P.K.2
-
5
-
-
0035125320
-
High residual activity of PMM2 in patients' fibroblasts: Possible pitfall in the diagnosis of CDG-1a (phosphomannomutase deficiency)
-
Grünewald S, Schollen E, Van Schaftingen E, Jaeken J, Matthijs G. 2001. High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-1a (phosphomannomutase deficiency). Am J Hum Genet 68: 347-354.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 347-354
-
-
Grünewald, S.1
Schollen, E.2
Van Schaftingen, E.3
Jaeken, J.4
Matthijs, G.5
-
6
-
-
0036840817
-
Congenital disorders of glycosylation: A review
-
Grünewald S, Matthijs G, Jaeken J. 2002. Congenital disorders of glycosylation: a review. Pediatr Res 52: 618-624.
-
(2002)
Pediatr Res
, vol.52
, pp. 618-624
-
-
Grünewald, S.1
Matthijs, G.2
Jaeken, J.3
-
7
-
-
0036402747
-
Oral mannose therapy persistently corrects the severe clinical symptoms and biochemical abnormalities of phosphomannose isomerase deficiency
-
Harms HK, Zimmer KP, Kumik K, Bertele-Harms RM, Weidinger S, Reiter K. 2002. Oral mannose therapy persistently corrects the severe clinical symptoms and biochemical abnormalities of phosphomannose isomerase deficiency. Acta Paediatr 91: 1065-1072.
-
(2002)
Acta Paediatr
, vol.91
, pp. 1065-1072
-
-
Harms, H.K.1
Zimmer, K.P.2
Kumik, K.3
Bertele-Harms, R.M.4
Weidinger, S.5
Reiter, K.6
-
8
-
-
0001325880
-
Defects of N-glycan synthesis
-
Scriver CR, Beaudet AL, Sly SL, Valle D (eds). McGraw-Hill: New York
-
Jaeken J, Matthijs G, Carchon H, Van Schaftingen E. 2001. Defects of N-glycan synthesis. In The Metabolic and Molecular Bases of Inherited Diseases, Scriver CR, Beaudet AL, Sly SL, Valle D (eds). McGraw-Hill: New York; 1601-1622.
-
(2001)
The Metabolic and Molecular Bases of Inherited Diseases
, pp. 1601-1622
-
-
Jaeken, J.1
Matthijs, G.2
Carchon, H.3
Van Schaftingen, E.4
-
9
-
-
0038042511
-
Komrower lecture. Congenital disorders of glycosylation (CDG): It's all in it!
-
Jaeken J. 2003. Komrower lecture. Congenital disorders of glycosylation (CDG): it's all in it! J Inherit Metab Dis 26: 99-118.
-
(2003)
J Inherit Metab Dis
, vol.26
, pp. 99-118
-
-
Jaeken, J.1
-
10
-
-
0033736282
-
Mutations in PMM2 that cause congenital disorders of glycosylation, type 1a (CDG-1a)
-
Matthijs G, Schollen E, Bjursell C, et al. 2000. Mutations in PMM2 that cause congenital disorders of glycosylation, type 1a (CDG-1a). Hum Mutat 16: 386-394.
-
(2000)
Hum Mutat
, vol.16
, pp. 386-394
-
-
Matthijs, G.1
Schollen, E.2
Bjursell, C.3
-
11
-
-
0031959340
-
Prenatal diagnosis in CDG1 families: Beware of heterogeneity
-
Matthijs G, Schollen E, Cassiman JJ, Cormier-Daire V, Jaeken J, van Schaftingen E. 1998. Prenatal diagnosis in CDG1 families: beware of heterogeneity. Eur J Hum Genet 6: 99-104.
-
(1998)
Eur J Hum Genet
, vol.6
, pp. 99-104
-
-
Matthijs, G.1
Schollen, E.2
Cassiman, J.J.3
Cormier-Daire, V.4
Jaeken, J.5
Van Schaftingen, E.6
-
12
-
-
0034082327
-
Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-1a (congenital disorders of glycosylation type 1a)
-
Schollen E, Kjaergaard S, Legius E, Schwartz M, Matthijs G. 2000. Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-1a (congenital disorders of glycosylation type 1a). Eur J Hum Genet 8: 367-371.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 367-371
-
-
Schollen, E.1
Kjaergaard, S.2
Legius, E.3
Schwartz, M.4
Matthijs, G.5
|