-
1
-
-
0000249979
-
Familial psychomotor retardation with markedly fluctuating serum proteins, FSH and GH levels, partial TBG deficiency, increased serum arylsulphatase A and increase CSF protein: A new syndrom?
-
Jaeken J, Vanderschueren-Lodeweyckx M, Casaer P, Snoeck L, Corbeel L, Eggermont E, et al. Familial psychomotor retardation with markedly fluctuating serum proteins, FSH and GH levels, partial TBG deficiency, increased serum arylsulphatase A and increase CSF protein: a new syndrom? Pediatr Res 1980; 14: 179.
-
(1980)
Pediatr Res
, vol.14
, pp. 179
-
-
Jaeken, J.1
Vanderschueren-Lodeweyckx, M.2
Casaer, P.3
Snoeck, L.4
Corbeel, L.5
Eggermont, E.6
-
2
-
-
0029585865
-
Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I
-
Van Schaftingen E, Jaeken J. Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Lett 1995; 377: 318-20.
-
(1995)
FEBS Lett
, vol.377
, pp. 318-320
-
-
Van Schaftingen, E.1
Jaeken, J.2
-
3
-
-
0021891884
-
Assembly of asparagine-linked oligosaccharides
-
Kornfeld R, Kornfeld S. Assembly of asparagine-linked oligosaccharides. Annu Rev Biochem 1985; 54: 631-64.
-
(1985)
Annu Rev Biochem
, vol.54
, pp. 631-664
-
-
Kornfeld, R.1
Kornfeld, S.2
-
4
-
-
0001709752
-
Glycosyltransferases involved in the synthesis of N-glycann antenae
-
Elsevier Amsterdam: H. Schachter, Editor
-
Schachter H, Glycosyltransferases involved in the synthesis of N-glycann antenae, in Glycoproteins, Elsevier Amsterdam: H. Schachter, Editor; 1995: pp. 153-200.
-
(1995)
Glycoproteins
, pp. 153-200
-
-
Schachter, H.1
-
5
-
-
0033333620
-
Carbohydrate - Deficient glycoprotein syndromes become congenital disorders of glycosylation: An updated nomenclature for CDG. First International Workshop on CDGS
-
Aebi M, Helenius A, Schenk B, Barone R, Fiumara A, Berger EG, et al. Carbohydrate - deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS. Glycoconj J 1999; 16: 669-71.
-
(1999)
Glycoconj J
, vol.16
, pp. 669-671
-
-
Aebi, M.1
Helenius, A.2
Schenk, B.3
Barone, R.4
Fiumara, A.5
Berger, E.G.6
-
6
-
-
0032904470
-
The dolichol pathway of N-linked glycosylation
-
Burda P, Aebi M. The dolichol pathway of N-linked glycosylation. Biochim Biophys Acta 1999; 1426: 239-57.
-
(1999)
Biochim Biophys Acta
, vol.1426
, pp. 239-257
-
-
Burda, P.1
Aebi, M.2
-
7
-
-
0026505331
-
Topography of glycosylation reactions in the endoplasmic reticulum
-
Abeijon C, Hirschberg CB. Topography of glycosylation reactions in the endoplasmic reticulum. Trends Biochem Sci 1992; 17: 32-6.
-
(1992)
Trends Biochem Sci
, vol.17
, pp. 32-36
-
-
Abeijon, C.1
Hirschberg, C.B.2
-
9
-
-
0028198111
-
How N-linked oligosaccharides affect glycoprotein folding in the endoplasmic reticulum
-
Helenius A. How N-linked oligosaccharides affect glycoprotein folding in the endoplasmic reticulum. Mol Biol Cell 1994; 5: 253-65.
-
(1994)
Mol Biol Cell
, vol.5
, pp. 253-265
-
-
Helenius, A.1
-
10
-
-
0029094253
-
Quality control in the secretory pathway
-
Hammond C, Helenius A. Quality control in the secretory pathway. Curr Opin Cell Biol 1995; 7: 523-9.
-
(1995)
Curr Opin Cell Biol
, vol.7
, pp. 523-529
-
-
Hammond, C.1
Helenius, A.2
-
11
-
-
0034131162
-
Protein glycosylation and diseases: Blood and urinary oligosaccharides as markers for diagnosis and therapeutic monitoring
-
Durand G, Seta N. Protein glycosylation and diseases: blood and urinary oligosaccharides as markers for diagnosis and therapeutic monitoring. Clin Chem 2000; 46: 795-805.
-
(2000)
Clin Chem
, vol.46
, pp. 795-805
-
-
Durand, G.1
Seta, N.2
-
12
-
-
0024854391
-
Microheterogeneity of the carbohydrate moiety of human alpha 1-acid glycoprotein in two benign liver diseases: Alcoholic cirrhosis and acute hepatitis
-
Biou D, Chanton P, Konan D, Seta N, N'Guyen H, Feger J, et al. Microheterogeneity of the carbohydrate moiety of human alpha 1-acid glycoprotein in two benign liver diseases: alcoholic cirrhosis and acute hepatitis. Clin Chim Acta 1989; 186: 59-66.
-
(1989)
Clin Chim Acta
, vol.186
, pp. 59-66
-
-
Biou, D.1
Chanton, P.2
Konan, D.3
Seta, N.4
N'Guyen, H.5
Feger, J.6
-
13
-
-
0020632324
-
Measurement of serum alpha 1-acid glycoprotein and alpha 1-antitrypsin desialylation in liver disease
-
Serbource-Goguel N, Corbic M, Erlinger S, Durand G, Agneray J, Feger J. Measurement of serum alpha 1-acid glycoprotein and alpha 1-antitrypsin desialylation in liver disease. Hepatology 1983; 3: 356-9.
-
(1983)
Hepatology
, vol.3
, pp. 356-359
-
-
Serbource-Goguel, N.1
Corbic, M.2
Erlinger, S.3
Durand, G.4
Agneray, J.5
Feger, J.6
-
14
-
-
0033736282
-
Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)
-
Matthijs G, Schollen E, Bjursell C, Erlandson A, Freeze H, Imtiaz F, et al. Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). Hum Mutat 2000; 16: 386-94.
-
(2000)
Hum Mutat
, vol.16
, pp. 386-394
-
-
Matthijs, G.1
Schollen, E.2
Bjursell, C.3
Erlandson, A.4
Freeze, H.5
Imtiaz, F.6
-
15
-
-
0035136834
-
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: A series of 26 cases
-
de Lonlay P, Seta N, Barrot S, Chabrol B, Drouin V, Gabriel B M, et al. A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. J Med Genet 2001; 38: 14-9.
-
(2001)
J Med Genet
, vol.38
, pp. 14-19
-
-
De Lonlay, P.1
Seta, N.2
Barrot, S.3
Chabrol, B.4
Drouin, V.5
Gabriel, B.M.6
-
16
-
-
0031656766
-
Failure of short-term mannose therapy of patients with carbohydrate-deficient glycoprotein syndrome type 1A
-
Kjaergaard S, Kristiansson B, Stibler H, Freeze HH, Schwartz M, Martinsson T, et al. Failure of short-term mannose therapy of patients with carbohydrate-deficient glycoprotein syndrome type 1A. Acta Paediatr 1998; 87: 884-8.
-
(1998)
Acta Paediatr
, vol.87
, pp. 884-888
-
-
Kjaergaard, S.1
Kristiansson, B.2
Stibler, H.3
Freeze, H.H.4
Schwartz, M.5
Martinsson, T.6
-
17
-
-
0000070998
-
Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy
-
Niehues R, Hasilik M, Alton G, Korner C, Schiebe-Sukumar M, Koch H G, et al. Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy. J Clin Invest 1998; 101: 1414-20.
-
(1998)
J Clin Invest
, vol.101
, pp. 1414-1420
-
-
Niehues, R.1
Hasilik, M.2
Alton, G.3
Korner, C.4
Schiebe-Sukumar, M.5
Koch, H.G.6
-
18
-
-
0033510652
-
Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose
-
de Lonlay P, Cuer M, Vuillaumier-Barrot S, Beaune G, Castelnau P, Kretz M, et al. Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose. J Pediatr 1999; 135: 379-83.
-
(1999)
J Pediatr
, vol.135
, pp. 379-383
-
-
De Lonlay, P.1
Cuer, M.2
Vuillaumier-Barrot, S.3
Beaune, G.4
Castelnau, P.5
Kretz, M.6
-
19
-
-
0032492583
-
A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency
-
de Koning TJ, Dorland L, van Diggelen OP, Boonman AM, de Jong GJ, van Noort WL, et al. A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency. Biochem Biophys Res Commun 1998; 245: 38-42.
-
(1998)
Biochem Biophys Res Commun
, vol.245
, pp. 38-42
-
-
De Koning, T.J.1
Dorland, L.2
Van Diggelen, O.P.3
Boonman, A.M.4
De Jong, G.J.5
Van Noort, W.L.6
-
20
-
-
17444448342
-
Phosphomannose isomerase deficiency: A carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation
-
Jaeken J, Matthijs G, Saudubray JM, 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: 1535-9.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 1535-1539
-
-
Jaeken, J.1
Matthijs, G.2
Saudubray, J.M.3
Dionisi-Vici, C.4
Bertini, E.5
De Lonlay, P.6
-
21
-
-
0032528886
-
A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide
-
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 glucosylation of the dolichol-linked oligosaccharide. J Clin Invest 1998; 102: 647-52.
-
(1998)
J Clin Invest
, vol.102
, pp. 647-652
-
-
Burda, P.1
Borsig, L.2
De Rijk-Van Andel, J.3
Wevers, R.4
Jaeken, J.5
Carchon, H.6
-
22
-
-
0032573176
-
Carbohydrate-deficient glycoprotein syndrome type V: Deficiency of dolichyl-P-Glc: Man9GlcNAc2-PP-dolichyl glucosyltransferase
-
Korner C, Knauer R, Holzbach U, Hanefeld F, Lehle L, von Figura K. Carbohydrate-deficient glycoprotein syndrome type V: Deficiency of dolichyl-P-Glc: Man9GlcNAc2-PP-dolichyl glucosyltransferase. Proc Natl Acad Sci USA 1998; 95: 13200-5.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 13200-13205
-
-
Korner, C.1
Knauer, R.2
Holzbach, U.3
Hanefeld, F.4
Lehle, L.5
Von Figura, K.6
-
23
-
-
0038497419
-
Carbohydrate deficient glycoprotein syndrome type IV: Deficiency of dolichyl-P-Man: Man (5) GlcNAc (2)-PP-dolichyl mannosyltransferase
-
Korner C, Knauer R, Stephani U, Marquardt T, Lehle L, von Figura K. Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man: Man (5) GlcNAc (2)-PP-dolichyl mannosyltransferase. Embo J 1999; 18: 6816-22.
-
(1999)
Embo J
, vol.18
, pp. 6816-6822
-
-
Korner, C.1
Knauer, R.2
Stephani, U.3
Marquardt, T.4
Lehle, L.5
Von Figura, K.6
-
24
-
-
0033968250
-
Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie
-
Imbach T, Schenk B, Schollen E, Burda P, Stutz A, Grunewald S, et al. Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie. J Clin Invest 2000; 105: 233-9.
-
(2000)
J Clin Invest
, vol.105
, pp. 233-239
-
-
Imbach, T.1
Schenk, B.2
Schollen, E.3
Burda, P.4
Stutz, A.5
Grunewald, S.6
-
25
-
-
0035213149
-
MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If
-
Schenk B, Imbach T, Frank CG, Grubenmann C E, Raymond G V, Hurvitz H, et al. MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If. J Clin Invest 2001; 108: 1687-95.
-
(2001)
J Clin Invest
, vol.108
, pp. 1687-1695
-
-
Schenk, B.1
Imbach, T.2
Frank, C.G.3
Grubenmann, C.E.4
Raymond G. V5
Hurvitz, H.6
-
26
-
-
18544384105
-
Congenital Disorders of Glycosylation (CDG) type Ig is defined by a deficiency in dolichol-P-mannose: Man7GlcNAc2-PP-dolichol mannosyltransferase
-
Chantret I, Dupre T, Delenda C, Bucher S, Dancourt J, Barnier A, et al. Congenital Disorders of Glycosylation (CDG) type Ig is defined by a deficiency in dolichol-P-mannose: Man7GlcNAc2-PP-dolichol mannosyltransferase. J Biol Chem 2002; 277: 25815-22.
-
(2002)
J Biol Chem
, vol.277
, pp. 25815-25822
-
-
Chantret, I.1
Dupre, T.2
Delenda, C.3
Bucher, S.4
Dancourt, J.5
Barnier, A.6
-
27
-
-
0141811252
-
A deficiency in dolichyl-P-glucose: Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new type of congenital disorders od glycosylation (CDG)
-
en ligne
-
Chantret I, Dupre T, Dancourt J, Vuillaumier-Barrot S, Ogier de Baulny H, Pelatan C, et al. A deficiency in dolichyl-P-glucose: Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new type of congenital disorders od glycosylation (CDG). J Biol Chem 2002; en ligne.
-
(2002)
J Biol Chem
-
-
Chantret, I.1
Dupre, T.2
Dancourt, J.3
Vuillaumier-Barrot, S.4
Ogier de Baulny, H.5
Pelatan, C.6
-
29
-
-
0027930443
-
Carbohydrate deficient glycoprotein syndrome type II: A deficiency in Golgi localised N-acetyl-glucosaminyltransferase II
-
Jaeken J, Schachter H, Carchon H, De Cock P, Coddeville B, Spik G. Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II. Arch Dis Child 1994; 71: 123-7.
-
(1994)
Arch Dis Child
, vol.71
, pp. 123-127
-
-
Jaeken, J.1
Schachter, H.2
Carchon, H.3
De Cock, P.4
Coddeville, B.5
Spik, G.6
-
30
-
-
0033939884
-
A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase 1 deficiency
-
De Praeter CM, Gerwig GJ, Bause E, Nuytinck LK, Vliegenthart J F, Breuer W, et al. A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase 1 deficiency. Am J Hum Genet 2000; 66: 1744-56.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1744-1756
-
-
De Praeter, C.M.1
Gerwig, G.J.2
Bause, E.3
Nuytinck, L.K.4
Vliegenthart, J.F.5
Breuer, W.6
-
31
-
-
0032763425
-
Correction of leukocyte adhesion deficiency type II with oral fucose
-
Marquardt T, Luhn K, Srikrishna G, Freeze HH, Harms E, Vestweber D. Correction of leukocyte adhesion deficiency type II with oral fucose. Blood 1999; 94: 3976-85.
-
(1999)
Blood
, vol.94
, pp. 3976-3985
-
-
Marquardt, T.1
Luhn, K.2
Srikrishna, G.3
Freeze, H.H.4
Harms, E.5
Vestweber, D.6
-
32
-
-
0040293459
-
A new type of carbohydrate-deficient glycoprotein syndrome due to a decreased import of GDP-fucose into the golgi
-
Lubke T, Marquardt T, von Figura K, Korner C. A new type of carbohydrate-deficient glycoprotein syndrome due to a decreased import of GDP-fucose into the golgi. J Biol Chem 1999; 274: 25986-9.
-
(1999)
J Biol Chem
, vol.274
, pp. 25986-25989
-
-
Lubke, T.1
Marquardt, T.2
Von Figura, K.3
Korner, C.4
-
33
-
-
0034210961
-
Fucose supplementation in leukocyte adhesion deficiency type II
-
Etzioni A, Tonetti M. Fucose supplementation in leukocyte adhesion deficiency type II. Blood 2000; 95: 3641-3.
-
(2000)
Blood
, vol.95
, pp. 3641-3643
-
-
Etzioni, A.1
Tonetti, M.2
-
34
-
-
0036200383
-
Deficiency of UDP-galactose: N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId
-
Hansske B, Thiel C, Lubke T, Hasilik M, Honing S, Peters V, et al. Deficiency of UDP-galactose: N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId. J Clin Invest 2002; 109: 725-33.
-
(2002)
J Clin Invest
, vol.109
, pp. 725-733
-
-
Hansske, B.1
Thiel, C.2
Lubke, T.3
Hasilik, M.4
Honing, S.5
Peters, V.6
-
35
-
-
0021686784
-
Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome
-
Jaeken J, van Eijk HG, van der Heul C, Corbeel L, Eeckels R, Eggermont E. Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome. Clin Chim Acta 1984; 144: 245-7.
-
(1984)
Clin Chim Acta
, vol.144
, pp. 245-247
-
-
Jaeken, J.1
Van Eijk, H.G.2
Van der Heul, C.3
Corbeel, L.4
Eeckels, R.5
Eggermont, E.6
-
36
-
-
0023732385
-
Microheterogeneity of human serum transferrin: A biological phenomenon studied by isoelectric focusing in immobilized pH gradients
-
de Jong G, van Eijk HG. Microheterogeneity of human serum transferrin: a biological phenomenon studied by isoelectric focusing in immobilized pH gradients. Electrophoresis 1988; 9: 589-98.
-
(1988)
Electrophoresis
, vol.9
, pp. 589-598
-
-
De Jong, G.1
Van Eijk, H.G.2
-
37
-
-
0030606024
-
Diagnostic value of' Western blotting in carbohydrate-deficient glycoprotein syndrome
-
Seta N, Barnier A, Hochedez F, Besnard MA, Durand G. Diagnostic value of' Western blotting in carbohydrate-deficient glycoprotein syndrome. Clin Chim Acta 1996; 254: 131-40.
-
(1996)
Clin Chim Acta
, vol.254
, pp. 131-140
-
-
Seta, N.1
Barnier, A.2
Hochedez, F.3
Besnard, M.A.4
Durand, G.5
-
38
-
-
0036267313
-
Leukocyte phosphomannomutase activity in diagnosis of congenital disorder of glycosylation Ia
-
Barnier A, Dupre T, Cuer M, Vuillaumier-Barrot S, Durand G, Seta N. Leukocyte phosphomannomutase activity in diagnosis of congenital disorder of glycosylation Ia. Clin Chem 2002; 48: 934-6.
-
(2002)
Clin Chem
, vol.48
, pp. 934-936
-
-
Barnier, A.1
Dupre, T.2
Cuer, M.3
Vuillaumier-Barrot, S.4
Durand, G.5
Seta, N.6
|