-
1
-
-
0001033564
-
Oligosaccharides in vertebrate development
-
Varki A., Marth J. Oligosaccharides in vertebrate development. Semin. Dev. Biol. 6:1995;127-138.
-
(1995)
Semin. Dev. Biol.
, vol.6
, pp. 127-138
-
-
Varki, A.1
Marth, J.2
-
2
-
-
0000249979
-
Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG deficiency, increased serum arylsulphatase A and increased CSF protein: A new syndrome?
-
Jaeken J., Vanderschueren-Lodeweyckx M., Casaer P., Snoeck L., Corbeel L., Eggermont E., Eeckels R. Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome? Pediatr. Res. 14:1980;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
Eeckels, R.7
-
3
-
-
0021686784
-
Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome
-
Jaeken J., van Eijk H.G., 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. 144:1984;245-247.
-
(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
-
4
-
-
26744449874
-
Carbohydrate-deficient glycoconjugate syndrome Type IA (phosphomannomutase deficiency)
-
in press
-
H. Carchon, E. Van Schaftingen, G. Matthijs, J. Jaeken, Carbohydrate-deficient glycoconjugate syndrome Type IA (phosphomannomutase deficiency), Biochim. Biophys. Acta, in press.
-
Biochim. Biophys. Acta
-
-
Carchon, H.1
Van Schaftingen, E.2
Matthijs, G.3
Jaeken, J.4
-
5
-
-
0027177255
-
Carbohydrate deficient glycoprotein (CDG) syndrome - A new variant, type III
-
Stibler H., Westerberg B., Hanefeld F., Hagberg B. Carbohydrate deficient glycoprotein (CDG) syndrome - a new variant, type III. Neuropediatrics. 24:1993;51-52.
-
(1993)
Neuropediatrics
, vol.24
, pp. 51-52
-
-
Stibler, H.1
Westerberg, B.2
Hanefeld, F.3
Hagberg, B.4
-
6
-
-
0028851977
-
Carbohydrate-deficient glycoprotein syndrome - A fourth subtype
-
Stibler H., Stephani U., Kutsch U. Carbohydrate-deficient glycoprotein syndrome - a fourth subtype. Neuropediatrics. 26:1995;235-237.
-
(1995)
Neuropediatrics
, vol.26
, pp. 235-237
-
-
Stibler, H.1
Stephani, U.2
Kutsch, U.3
-
7
-
-
26744433233
-
Molecular basis of carbohydrate-deficient glycoprotein syndromes Type I with normal phosphomannomutase activity
-
in press
-
H.H. Freeze, M. Aebi, Molecular basis of carbohydrate-deficient glycoprotein syndromes Type I with normal phosphomannomutase activity, Biochim. Biophys. Acta, in press.
-
Biochim. Biophys. Acta
-
-
Freeze, H.H.1
Aebi, M.2
-
8
-
-
0027398495
-
Early manifestations of the carbohydrate-deficient glycoprotein syndrome
-
Petersen M.B., Brostrom K., Stibler H., Skovby F. Early manifestations of the carbohydrate-deficient glycoprotein syndrome. J. Pediatr. 122:1993;66-70.
-
(1993)
J. Pediatr.
, vol.122
, pp. 66-70
-
-
Petersen, M.B.1
Brostrom, K.2
Stibler, H.3
Skovby, F.4
-
9
-
-
0031814087
-
Intestinal, pancreatic and hepatic involvement in carbohydrate-deficient glycoprotein syndrome type I
-
Kristiansson B., Borulf S., Conradi N., ErlansonAlbertsson C., Ryd W., Stibler H. Intestinal, pancreatic and hepatic involvement in carbohydrate-deficient glycoprotein syndrome type I. J. Pediatr. Gastroenterol. Nutr. 27:1998;23-29.
-
(1998)
J. Pediatr. Gastroenterol. Nutr.
, vol.27
, pp. 23-29
-
-
Kristiansson, B.1
Borulf, S.2
Conradi, N.3
Erlansonalbertsson, C.4
Ryd, W.5
Stibler, H.6
-
10
-
-
0028116145
-
Carbohydrate deficient glycoprotein syndrome type I: Ophthalmic aspects in four Sicilian patients
-
Fiumara A., Barone R., Buttitta P., Dipietro M., Scuderi A., Nigro F., Jaeken J. Carbohydrate deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients. Br. J. Ophthalmol. 78:1994;845-846.
-
(1994)
Br. J. Ophthalmol.
, vol.78
, pp. 845-846
-
-
Fiumara, A.1
Barone, R.2
Buttitta, P.3
Dipietro, M.4
Scuderi, A.5
Nigro, F.6
Jaeken, J.7
-
11
-
-
0029908518
-
Evolution of ophthalmic and electrophysiological findings in identical twin sisters with the carbohydrate deficient glycoprotein syndrome type 1 over a period of 14 years
-
Casteels I., Spileers W., Leys A., Lagae L., Jaeken J. Evolution of ophthalmic and electrophysiological findings in identical twin sisters with the carbohydrate deficient glycoprotein syndrome type 1 over a period of 14 years. Br. J. Ophthalmol. 80:1996;900-902.
-
(1996)
Br. J. Ophthalmol.
, vol.80
, pp. 900-902
-
-
Casteels, I.1
Spileers, W.2
Leys, A.3
Lagae, L.4
Jaeken, J.5
-
12
-
-
0031919025
-
Carbohydrate-deficient glycoprotein syndrome type I: A new cause of dysostosis multiplex
-
Garel C., Baumann C., Besnard M., Ogier H., Jaeken J., Hassan M. Carbohydrate-deficient glycoprotein syndrome type I: a new cause of dysostosis multiplex. Skelet. Radiol. 27:1998;43-45.
-
(1998)
Skelet. Radiol.
, vol.27
, pp. 43-45
-
-
Garel, C.1
Baumann, C.2
Besnard, M.3
Ogier, H.4
Jaeken, J.5
Hassan, M.6
-
13
-
-
77956687878
-
Carbohydrate-deficient glycoprotein syndrome type I
-
in: J. Montreuil, J.F.G. Vliegenthart, H. Schachter (Eds.), Elsevier, Amsterdam
-
K. Yamashita, K. Ohno, Carbohydrate-deficient glycoprotein syndrome type I, in: J. Montreuil, J.F.G. Vliegenthart, H. Schachter (Eds.), Glycoproteins and Disease, Vol. 30, Elsevier, Amsterdam, 1996, pp. 445-455.
-
(1996)
Glycoproteins and Disease
, vol.30
, pp. 445-455
-
-
Yamashita, K.1
Ohno, K.2
-
14
-
-
0029848781
-
Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I
-
Pavone L., Fiumara A., Barone R., Rizzo R., Buttitta P., Dobyns W.B., Jaeken J. Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I. J. Neurol. 243:1996;700-705.
-
(1996)
J. Neurol.
, vol.243
, pp. 700-705
-
-
Pavone, L.1
Fiumara, A.2
Barone, R.3
Rizzo, R.4
Buttitta, P.5
Dobyns, W.B.6
Jaeken, J.7
-
15
-
-
0029027206
-
Localized proton magnetic resonance spectroscopy of cerebral abnormalities in children with carbohydrate-deficient glycoprotein syndrome
-
Holzbach U., Hanefeld F., Helms G., Hanicke W., Frahm J. Localized proton magnetic resonance spectroscopy of cerebral abnormalities in children with carbohydrate-deficient glycoprotein syndrome. Acta Paediatr. 84:1995;781-786.
-
(1995)
Acta Paediatr.
, vol.84
, pp. 781-786
-
-
Holzbach, U.1
Hanefeld, F.2
Helms, G.3
Hanicke, W.4
Frahm, J.5
-
16
-
-
0029068298
-
Cerebellar hypoplasia in children with the carbohydrate-deficient glycoprotein syndrome
-
Jensen P.R., Hansen F.J., Skovby F. Cerebellar hypoplasia in children with the carbohydrate-deficient glycoprotein syndrome. Neuroradiology. 37:1995;328-330.
-
(1995)
Neuroradiology
, vol.37
, pp. 328-330
-
-
Jensen, P.R.1
Hansen, F.J.2
Skovby, F.3
-
17
-
-
0029087546
-
Neuroradiological findings in the carbohydrate-deficient glycoprotein syndrome
-
Akaboshi S., Ohno K., Takeshita K. Neuroradiological findings in the carbohydrate-deficient glycoprotein syndrome. Neuroradiology. 37:1995;491-495.
-
(1995)
Neuroradiology
, vol.37
, pp. 491-495
-
-
Akaboshi, S.1
Ohno, K.2
Takeshita, K.3
-
18
-
-
0025779295
-
Postmortem findings in two patients with the carbohydrate-deficient glycoprotein syndrome
-
Stromme P., Maehlen J., Strom E.H., Torvik A. Postmortem findings in two patients with the carbohydrate-deficient glycoprotein syndrome. Acta. Paediatr. Scand. 80:1991;55-62.
-
(1991)
Acta. Paediatr. Scand.
, vol.80
, pp. 55-62
-
-
Stromme, P.1
Maehlen, J.2
Strom, E.H.3
Torvik, A.4
-
19
-
-
0025772569
-
Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome
-
Horslen S.P., Clayton P.T., Harding B.N., Hall N.A., Keir G., Winchester B. Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome. Arch. Dis. Child. 66:1991;1027-1032.
-
(1991)
Arch. Dis. Child.
, vol.66
, pp. 1027-1032
-
-
Horslen, S.P.1
Clayton, P.T.2
Harding, B.N.3
Hall, N.A.4
Keir, G.5
Winchester, B.6
-
20
-
-
0027440619
-
The carbohydrate-deficient glycoprotein syndromes - pre-Golgi and Golgi disorders?
-
Jaeken J., Carchon H., Stibler H. The carbohydrate-deficient glycoprotein syndromes - pre-Golgi and Golgi disorders? Glycobiology. 3:1993;423-428.
-
(1993)
Glycobiology
, vol.3
, pp. 423-428
-
-
Jaeken, J.1
Carchon, H.2
Stibler, H.3
-
22
-
-
0027432264
-
Carbohydrate-deficient glycoprotein syndrome Type II
-
Jaeken J., Decock P., Stibler H., Vangeet C., Kint J., Ramaekers V., Carchon H. Carbohydrate-deficient glycoprotein syndrome Type II. J. Inherit. Metab. Dis. 16:1993;1041.
-
(1993)
J. Inherit. Metab. Dis.
, vol.16
, pp. 1041
-
-
Jaeken, J.1
Decock, P.2
Stibler, H.3
Vangeet, C.4
Kint, J.5
Ramaekers, V.6
Carchon, H.7
-
23
-
-
0027930443
-
Carbohydrate deficient glycoprotein syndrome type II: A deficiency in Golgi localised N-acetylglucosaminyltransferase II
-
Jaeken J., Schachter H., Carchon H., Decock P., Coddeville B., Spik G. Carbohydrate deficient glycoprotein syndrome type II: A deficiency in Golgi localised N-acetylglucosaminyltransferase II. Arch. Dis. Child. 71:1994;123-127.
-
(1994)
Arch. Dis. Child.
, vol.71
, pp. 123-127
-
-
Jaeken, J.1
Schachter, H.2
Carchon, H.3
Decock, P.4
Coddeville, B.5
Spik, G.6
-
24
-
-
0020318359
-
The structural heterogeneity of the carbohydrate moiety of desialylated human transferrin
-
März L., Hatton M.W., Berry L.R., Regoeczi E. The structural heterogeneity of the carbohydrate moiety of desialylated human transferrin. Can. J. Biochem. 60:1982;624-630.
-
(1982)
Can. J. Biochem.
, vol.60
, pp. 624-630
-
-
März, L.1
Hatton, M.W.2
Berry, L.R.3
Regoeczi, E.4
-
25
-
-
84878788105
-
Studies on glycoconjugates. LXIV. Complete structure of two carbohydrate units of human serotransferrin
-
Spik G., Bayard B., Fournet B., Strecker G., Bouquelet S., Montreuil J. Studies on glycoconjugates. LXIV. Complete structure of two carbohydrate units of human serotransferrin. FEBS Lett. 50:1975;296-299.
-
(1975)
FEBS Lett.
, vol.50
, pp. 296-299
-
-
Spik, G.1
Bayard, B.2
Fournet, B.3
Strecker, G.4
Bouquelet, S.5
Montreuil, J.6
-
26
-
-
0021914345
-
Primary structure of two sialylated triantennary glycans from human serotransferrin
-
Spik G., Debruyne V., Montreuil J., van Halbeek H., Vliegenthart J.F.G. Primary structure of two sialylated triantennary glycans from human serotransferrin. FEBS Lett. 183:1985;65-69.
-
(1985)
FEBS Lett.
, vol.183
, pp. 65-69
-
-
Spik, G.1
Debruyne, V.2
Montreuil, J.3
Van Halbeek, H.4
Vliegenthart, J.F.G.5
-
27
-
-
0026799211
-
N-Glycosylation site mapping of human serotransferrin by serial lectin affinity chromatography, fast atom bombardment-mass spectrometry, and 1H nuclear magnetic resonance spectroscopy
-
Fu D., Van Halbeek H. N-Glycosylation site mapping of human serotransferrin by serial lectin affinity chromatography, fast atom bombardment-mass spectrometry, and 1H nuclear magnetic resonance spectroscopy. Anal. Biochem. 206:1992;53-63.
-
(1992)
Anal. Biochem.
, vol.206
, pp. 53-63
-
-
Fu, D.1
Van Halbeek, H.2
-
28
-
-
0031935176
-
Determination of glycan structures and molecular masses of the glycovariants of serum transferrin from a patient with carbohydrate deficient syndrome type II
-
Coddeville B., Carchon H., Jaeken J., Briand G., Spik G. Determination of glycan structures and molecular masses of the glycovariants of serum transferrin from a patient with carbohydrate deficient syndrome type II. Glycoconjugate J. 15:1998;265-273.
-
(1998)
Glycoconjugate J.
, vol.15
, pp. 265-273
-
-
Coddeville, B.1
Carchon, H.2
Jaeken, J.3
Briand, G.4
Spik, G.5
-
29
-
-
77956655375
-
Carbohydrate-deficient glycoprotein syndrome Type II: An autosomal recessive disease due to mutations in the N-acetylglucosaminyltransferase II gene
-
in: J. Montreuil, J.F.G. Vliegenthart, H. Schachter (Eds.), Elsevier, Amsterdam
-
J. Jaeken, G. Spik, H. Schachter, Carbohydrate-deficient glycoprotein syndrome Type II: an autosomal recessive disease due to mutations in the N-acetylglucosaminyltransferase II gene, in: J. Montreuil, J.F.G. Vliegenthart, H. Schachter (Eds.), Glycoproteins and Disease, Vol. 30, Elsevier, Amsterdam, 1996, pp. 457-467.
-
(1996)
Glycoproteins and Disease
, vol.30
, pp. 457-467
-
-
Jaeken, J.1
Spik, G.2
Schachter, H.3
-
30
-
-
0026437747
-
Adaptation of transferrin protein and glycan synthesis
-
De Jong G., van Noort W.L., Feelders R.A., de Jeu-Jaspars C.M.H., van Eijk H.G. Adaptation of transferrin protein and glycan synthesis. Clin. Chim. Acta. 212:1992;27-45.
-
(1992)
Clin. Chim. Acta
, vol.212
, pp. 27-45
-
-
De Jong, G.1
Van Noort, W.L.2
Feelders, R.A.3
De Jeu-Jaspars, C.M.H.4
Van Eijk, H.G.5
-
31
-
-
0025138544
-
Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome
-
Stibler H., Jaeken J. Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome. Arch. Dis. Child. 65:1990;107-111.
-
(1990)
Arch. Dis. Child.
, vol.65
, pp. 107-111
-
-
Stibler, H.1
Jaeken, J.2
-
32
-
-
0031744401
-
Carbohydrate deficient transferrin measurement
-
Foo Y., Rosalki S.B. Carbohydrate deficient transferrin measurement. Ann. Clin. Biochem. 35:1998;345-350.
-
(1998)
Ann. Clin. Biochem.
, vol.35
, pp. 345-350
-
-
Foo, Y.1
Rosalki, S.B.2
-
33
-
-
0029732809
-
The identification of abnormal glycoforms of serum transferrin in carbohydrate deficient glycoprotein syndrome type I by capillary zone electrophoresis
-
Iourin O., Mattu T.S., Mian N., Keir G., Winchester B., Dwek R.A., Rudd P.M. The identification of abnormal glycoforms of serum transferrin in carbohydrate deficient glycoprotein syndrome type I by capillary zone electrophoresis. Glycoconjugate J. 13:1996;1031-1042.
-
(1996)
Glycoconjugate J.
, vol.13
, pp. 1031-1042
-
-
Iourin, O.1
Mattu, T.S.2
Mian, N.3
Keir, G.4
Winchester, B.5
Dwek, R.A.6
Rudd, P.M.7
-
34
-
-
0030869940
-
Capillary electrophoresis-based separation of transferrin sialoforms in patients with carbohydrate-deficient glycoprotein syndrome
-
Oda R.P., Prasad R., Stout R.L., Coffin D., Patton W.P., Kraft D.L., O'Brien J.F., Landers J.P. Capillary electrophoresis-based separation of transferrin sialoforms in patients with carbohydrate-deficient glycoprotein syndrome. Electrophoresis. 18:1997;1819-1826.
-
(1997)
Electrophoresis
, vol.18
, pp. 1819-1826
-
-
Oda, R.P.1
Prasad, R.2
Stout, R.L.3
Coffin, D.4
Patton, W.P.5
Kraft, D.L.6
O'Brien, J.F.7
Landers, J.P.8
-
35
-
-
0027503288
-
Sugar chains of serum transferrin from patients with carbohydrate deficient glycoprotein syndrome. Evidence of asparagine-N-linked oligosaccharide transfer deficiency
-
Yamashita K., Ideo H., Ohkura T., Fukushima K., Yuasa I., Ohno K., Takeshita K. Sugar chains of serum transferrin from patients with carbohydrate deficient glycoprotein syndrome. Evidence of asparagine-N-linked oligosaccharide transfer deficiency. J. Biol. Chem. 268:1993;5783-5789.
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 5783-5789
-
-
Yamashita, K.1
Ideo, H.2
Ohkura, T.3
Fukushima, K.4
Yuasa, I.5
Ohno, K.6
Takeshita, K.7
-
36
-
-
0028958406
-
Carbohydrate-deficient glycoprotein syndrome: Electrophoretic study of multiple serum glycoproteins
-
Yuasa I., Ohno K., Hashimoto K., Iijima K., Yamashita K., Takeshita K. Carbohydrate-deficient glycoprotein syndrome: electrophoretic study of multiple serum glycoproteins. Brain Dev. 17:1995;13-19.
-
(1995)
Brain Dev.
, vol.17
, pp. 13-19
-
-
Yuasa, I.1
Ohno, K.2
Hashimoto, K.3
Iijima, K.4
Yamashita, K.5
Takeshita, K.6
-
37
-
-
12644271204
-
Microheterogeneity of serum glycoproteins and their liver precursors in patients with carbohydrate-deficient glycoprotein syndrome type I: Apparent deficiencies in clusterin and serum amyloid P
-
Henry H., Tissot J.D., Messerli B., Markert M., Muntau A., Skladal D., Sperl W., Jaeken J., Weidinger S., Heyne K., Bachmann C. Microheterogeneity of serum glycoproteins and their liver precursors in patients with carbohydrate-deficient glycoprotein syndrome type I: apparent deficiencies in clusterin and serum amyloid P. J. Lab. Clin. Med. 129:1997;412-421.
-
(1997)
J. Lab. Clin. Med.
, vol.129
, pp. 412-421
-
-
Henry, H.1
Tissot, J.D.2
Messerli, B.3
Markert, M.4
Muntau, A.5
Skladal, D.6
Sperl, W.7
Jaeken, J.8
Weidinger, S.9
Heyne, K.10
Bachmann, C.11
-
38
-
-
0026731777
-
Multiple serum protein abnormalities in carbohydrate-deficient glycoprotein syndrome: Pathognomonic finding of two-dimensional electrophoresis?
-
Harrison H.H., Miller K.L., Harbison M.D., Slonim A.E. Multiple serum protein abnormalities in carbohydrate-deficient glycoprotein syndrome: pathognomonic finding of two-dimensional electrophoresis? Clin. Chem. 38:1992;1390-1392.
-
(1992)
Clin. Chem.
, vol.38
, pp. 1390-1392
-
-
Harrison, H.H.1
Miller, K.L.2
Harbison, M.D.3
Slonim, A.E.4
-
39
-
-
0027768796
-
Electrospray ionization-mass spectrometric analysis of serum transferrin isoforms in patients with carbohydrate-deficient glycoprotein syndrome
-
Yamashita K., Ohkura T., Ideo H., Ohno K., Kanai M. Electrospray ionization-mass spectrometric analysis of serum transferrin isoforms in patients with carbohydrate-deficient glycoprotein syndrome. J. Biochem. 114:1993;766-769.
-
(1993)
J. Biochem.
, vol.114
, pp. 766-769
-
-
Yamashita, K.1
Ohkura, T.2
Ideo, H.3
Ohno, K.4
Kanai, M.5
-
40
-
-
0027051210
-
Structure of serum transferrin in carbohydrate-deficient glycoprotein syndrome
-
Wada Y., Nishikawa A., Okamoto N., Inui K., Tsukamoto H., Okada S., Taniguchi N. Structure of serum transferrin in carbohydrate-deficient glycoprotein syndrome. Biochem. Biophys. Res. Commun. 189:1992;832-836.
-
(1992)
Biochem. Biophys. Res. Commun.
, vol.189
, pp. 832-836
-
-
Wada, Y.1
Nishikawa, A.2
Okamoto, N.3
Inui, K.4
Tsukamoto, H.5
Okada, S.6
Taniguchi, N.7
-
41
-
-
0028178360
-
Diagnosis of carbohydrate-deficient glycoprotein syndrome by matrix-assisted laser desorption time-of-flight mass spectrometry
-
Wada Y., Gu J.G., Okamoto N., Inui K. Diagnosis of carbohydrate-deficient glycoprotein syndrome by matrix-assisted laser desorption time-of-flight mass spectrometry. Biol. Mass. Spectrom. 23:1994;108-109.
-
(1994)
Biol. Mass. Spectrom.
, vol.23
, pp. 108-109
-
-
Wada, Y.1
Gu, J.G.2
Okamoto, N.3
Inui, K.4
-
42
-
-
0027970923
-
Carbohydrate-deficient glycoprotein syndrome: Not an N-linked oligosaccharide processing defect, but an abnormality in lipid-linked oligosaccharide biosynthesis?
-
Powell L.D., Paneerselvam K., Vij R., Diaz S., Manzi A., Buist N., Freeze H., Varki A. Carbohydrate-deficient glycoprotein syndrome: not an N-linked oligosaccharide processing defect, but an abnormality in lipid-linked oligosaccharide biosynthesis? J. Clin. Invest. 94:1994;1901-1909.
-
(1994)
J. Clin. Invest.
, vol.94
, pp. 1901-1909
-
-
Powell, L.D.1
Paneerselvam, K.2
Vij, R.3
Diaz, S.4
Manzi, A.5
Buist, N.6
Freeze, H.7
Varki, A.8
-
43
-
-
0029843360
-
Haemostatic studies in carbohydrate-deficient glycoprotein syndrome type I
-
Fiumara A., Barone R., Buttitta P., Musso R., Pavone L., Nigro F., Jaeken J. Haemostatic studies in carbohydrate-deficient glycoprotein syndrome type I. Thromb. Haemost. 76:1996;502-504.
-
(1996)
Thromb. Haemost.
, vol.76
, pp. 502-504
-
-
Fiumara, A.1
Barone, R.2
Buttitta, P.3
Musso, R.4
Pavone, L.5
Nigro, F.6
Jaeken, J.7
-
44
-
-
0031909015
-
Isoforms and levels of transferrin, antithrombin, alpha(1)-antitrypsin and thyroxine-binding globulin in 48 patients with carbohydrate-deficient glycoprotein syndrome type I
-
Stibler H., Holzbach U., Kristiansson B. Isoforms and levels of transferrin, antithrombin, alpha(1)-antitrypsin and thyroxine-binding globulin in 48 patients with carbohydrate-deficient glycoprotein syndrome type I. Scand. J. Clin. Lab. Invest. 58:1998;55-61.
-
(1998)
Scand. J. Clin. Lab. Invest.
, vol.58
, pp. 55-61
-
-
Stibler, H.1
Holzbach, U.2
Kristiansson, B.3
-
45
-
-
0027222950
-
A unique pattern of coagulation abnormalities in carbohydrate-deficient glycoprotein syndrome
-
Van Geet C., Jaeken J. A unique pattern of coagulation abnormalities in carbohydrate-deficient glycoprotein syndrome. Pediatr. Res. 33:1993;540-541.
-
(1993)
Pediatr. Res.
, vol.33
, pp. 540-541
-
-
Van Geet, C.1
Jaeken, J.2
-
46
-
-
0030000096
-
Complex functional and structural coagulation abnormalities in the carbohydrate-deficient glycoprotein syndrome type I
-
Stibler H., Holzbach U., Tengborn L., Kristiansson B. Complex functional and structural coagulation abnormalities in the carbohydrate-deficient glycoprotein syndrome type I. Blood Coagulat. Fibrinol. 7:1996;118-126.
-
(1996)
Blood Coagulat. Fibrinol.
, vol.7
, pp. 118-126
-
-
Stibler, H.1
Holzbach, U.2
Tengborn, L.3
Kristiansson, B.4
-
47
-
-
0027247682
-
Decreased blood coagulation activities in carbohydrate-deficient glycoprotein syndrome
-
Okamoto N., Wada Y., Kobayashi M., Otani K., Tagawa T., Futagi Y., Imayoshi Y., Hayashi A., Shimizu A., Kato Y. Decreased blood coagulation activities in carbohydrate-deficient glycoprotein syndrome. J. Inherit. Metab. Dis. 16:1993;435-440.
-
(1993)
J. Inherit. Metab. Dis.
, vol.16
, pp. 435-440
-
-
Okamoto, N.1
Wada, Y.2
Kobayashi, M.3
Otani, K.4
Tagawa, T.5
Futagi, Y.6
Imayoshi, Y.7
Hayashi, A.8
Shimizu, A.9
Kato, Y.10
-
48
-
-
0028924164
-
Endocrinology of the carbohydrate-deficient glycoprotein syndrome type 1 from birth through adolescence
-
De Zegher F., Jaeken J. Endocrinology of the carbohydrate-deficient glycoprotein syndrome type 1 from birth through adolescence. Pediatr. Res. 37:1995;395-401.
-
(1995)
Pediatr. Res.
, vol.37
, pp. 395-401
-
-
De Zegher, F.1
Jaeken, J.2
-
49
-
-
0029008612
-
Gonadal function and glycoprotein hormones in the carbohydrate-deficient glycoprotein (CDG) syndrome
-
Kristiansson B., Stibler H., Wide L. Gonadal function and glycoprotein hormones in the carbohydrate-deficient glycoprotein (CDG) syndrome. Acta Paediatr. 84:1995;655-659.
-
(1995)
Acta Paediatr.
, vol.84
, pp. 655-659
-
-
Kristiansson, B.1
Stibler, H.2
Wide, L.3
-
50
-
-
0031979479
-
Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency)
-
Barone R., Carchon H., Jansen E., Pavone L., Fiumara A., Bosshard N.U., Gitzelmann R., Jaeken J. Lysosomal enzyme activities in serum and leukocytes from patients with carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase deficiency). J. Inherit. Metab. Dis. 21:1998;167-172.
-
(1998)
J. Inherit. Metab. Dis.
, vol.21
, pp. 167-172
-
-
Barone, R.1
Carchon, H.2
Jansen, E.3
Pavone, L.4
Fiumara, A.5
Bosshard, N.U.6
Gitzelmann, R.7
Jaeken, J.8
-
51
-
-
0026588779
-
The carbohydrate deficient glycoprotein syndrome in three Japanese children
-
Ohno K., Yuasa I., Akaboshi S., Itoh M., Yoshida K., Ehara H., Ochiai Y., Takeshita K. The carbohydrate deficient glycoprotein syndrome in three Japanese children. Brain Dev. 14:1992;30-35.
-
(1992)
Brain Dev.
, vol.14
, pp. 30-35
-
-
Ohno, K.1
Yuasa, I.2
Akaboshi, S.3
Itoh, M.4
Yoshida, K.5
Ehara, H.6
Ochiai, Y.7
Takeshita, K.8
-
52
-
-
0025775843
-
Biochemical characteristics and diagnosis of the carbohydrate-deficient glycoprotein syndrome
-
Stibler H., Jaeken J., Kristiansson B. Biochemical characteristics and diagnosis of the carbohydrate-deficient glycoprotein syndrome. Acta Paediatr. Scand. 80:1991;21-31.
-
(1991)
Acta Paediatr. Scand.
, vol.80
, pp. 21-31
-
-
Stibler, H.1
Jaeken, J.2
Kristiansson, B.3
-
53
-
-
0030606024
-
Diagnostic value of Western blotting in carbohydrate-deficient glycoprotein syndrome
-
Seta N., Barnier A., Hochedez F., Besnard M.A., Durand G. Diagnostic value of Western blotting in carbohydrate-deficient glycoprotein syndrome. Clin. Chim. Acta. 254:1996;131-140.
-
(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
-
54
-
-
0011078093
-
Oligosaccharide structures of immunoglobulin G from two patients with carbohydrate-deficient glycoprotein syndrome
-
Gu J., Kondo A., Okamoto N., Wada Y. Oligosaccharide structures of immunoglobulin G from two patients with carbohydrate-deficient glycoprotein syndrome. Glycosylation Dis. 1:1994;247-252.
-
(1994)
Glycosylation Dis.
, vol.1
, pp. 247-252
-
-
Gu, J.1
Kondo, A.2
Okamoto, N.3
Wada, Y.4
-
55
-
-
0031050055
-
Apolipoprotein J deficiency in types I and IV carbohydrate-deficient glycoprotein syndrome (glycanosis CDG)
-
Heyne K., Henry H., Messerli B., Bachmann C., Stephani U., Tissot J.-D., Weidinger S. Apolipoprotein J deficiency in types I and IV carbohydrate-deficient glycoprotein syndrome (glycanosis CDG). Eur. J. Pediatr. 156:1997;247-248.
-
(1997)
Eur. J. Pediatr.
, vol.156
, pp. 247-248
-
-
Heyne, K.1
Henry, H.2
Messerli, B.3
Bachmann, C.4
Stephani, U.5
Tissot, J.-D.6
Weidinger, S.7
-
56
-
-
0031472368
-
Hypoglycosylation of a brain glycoprotein (beta-trace protein) in CDG syndromes due to phosphomannomutase deficiency and N-acetylglucosaminyl-transferase II deficiency
-
Pohl S., Hoffmann A., Rudiger A., Nimtz M., Jaeken J., Conradt H.S. Hypoglycosylation of a brain glycoprotein (beta-trace protein) in CDG syndromes due to phosphomannomutase deficiency and N-acetylglucosaminyl-transferase II deficiency. Glycobiology. 7:1997;1077-1084.
-
(1997)
Glycobiology
, vol.7
, pp. 1077-1084
-
-
Pohl, S.1
Hoffmann, A.2
Rudiger, A.3
Nimtz, M.4
Jaeken, J.5
Conradt, H.S.6
-
57
-
-
0029024820
-
Aberrant expressions of decorin and biglycan genes in the carbohydrate-deficient glycoprotein syndrome
-
Gu J.G., Wada Y. Aberrant expressions of decorin and biglycan genes in the carbohydrate-deficient glycoprotein syndrome. J. Biochem. 117:1995;1276-1279.
-
(1995)
J. Biochem.
, vol.117
, pp. 1276-1279
-
-
Gu, J.G.1
Wada, Y.2
-
58
-
-
0029944861
-
Effect of exogenous decorin on cell morphology and attachment of decorin-deficient fibroblasts
-
Gu J., Wada Y. Effect of exogenous decorin on cell morphology and attachment of decorin-deficient fibroblasts. J. Biochem. 119:1996;743-748.
-
(1996)
J. Biochem.
, vol.119
, pp. 743-748
-
-
Gu, J.1
Wada, Y.2
-
59
-
-
0028962872
-
Carbohydrate-deficient glycoprotein syndrome (CDGS) - glycosylation, folding and intracellular transport of newly synthesized glycoproteins
-
Marquardt T., Ullrich K., Zimmer P., Hasilik A., Deufel T., Harms E. Carbohydrate-deficient glycoprotein syndrome (CDGS) - glycosylation, folding and intracellular transport of newly synthesized glycoproteins. Eur. J. Cell Biol. 66:1995;268-273.
-
(1995)
Eur. J. Cell Biol.
, vol.66
, pp. 268-273
-
-
Marquardt, T.1
Ullrich, K.2
Zimmer, P.3
Hasilik, A.4
Deufel, T.5
Harms, E.6
-
60
-
-
0022462129
-
Biosynthetic controls that determine the branching and microheterogeneity of protein-bound oligosaccharides
-
Schachter H. Biosynthetic controls that determine the branching and microheterogeneity of protein-bound oligosaccharides. Biochem. Cell Biol. 64:1986;163-181.
-
(1986)
Biochem. Cell Biol.
, vol.64
, pp. 163-181
-
-
Schachter, H.1
-
61
-
-
77956836494
-
Glycosyltransferases involved in the synthesis of N-glycan antennae
-
in: H. Montreuil, J.F.G. Vliegenthart, H. Schachter (Eds.), Elsevier, Amsterdam
-
H. Schachter, Glycosyltransferases involved in the synthesis of N-glycan antennae, in: H. Montreuil, J.F.G. Vliegenthart, H. Schachter (Eds.), Glycoproteins, Vol. 29a, Elsevier, Amsterdam, 1995, pp. 153-199.
-
(1995)
Glycoproteins
, vol.29 A
, pp. 153-199
-
-
Schachter, H.1
-
62
-
-
0025731425
-
Organization and localization to chromosome 5 of the human UDP-N-acetylglucosamine:alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I gene
-
Hull E., Sarkar M., Spruijt M.P.N., Höppener J.W.M., Dunn R., Schachter H. Organization and localization to chromosome 5 of the human UDP-N-acetylglucosamine:alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I gene. Biochem. Biophys. Res. Commun. 176:1991;608-615.
-
(1991)
Biochem. Biophys. Res. Commun.
, vol.176
, pp. 608-615
-
-
Hull, E.1
Sarkar, M.2
Spruijt, M.P.N.3
Höppener, J.W.M.4
Dunn, R.5
Schachter, H.6
-
63
-
-
0025638959
-
Cloning and expression of N-acetylglucosaminyltransferase I, the medial Golgi transferase that initiates complex N-linked carbohydrate formation
-
Kumar R., Yang J., Larsen R.D., Stanley P. Cloning and expression of N-acetylglucosaminyltransferase I, the medial Golgi transferase that initiates complex N-linked carbohydrate formation. Proc. Natl. Acad. Sci. USA. 87:1990;9948-9952.
-
(1990)
Proc. Natl. Acad. Sci. USA
, vol.87
, pp. 9948-9952
-
-
Kumar, R.1
Yang, J.2
Larsen, R.D.3
Stanley, P.4
-
64
-
-
0028980935
-
The human UDP-N-acetylglucosamine: Alpha-6-D-mannoside-beta-1,2-N-acetylglucosaminyltransferase II gene (MGAT2) - cloning of genomic DNA, localization to chromosome 14q21, expression in insect cells and purification of the recombinant protein
-
Tan J., D'Agostaro G.A.F., Bendiak B., Reck F., Sarkar M., Squire J.A., Leong P., Schachter H. The human UDP-N-acetylglucosamine: alpha-6-D-mannoside-beta-1,2-N-acetylglucosaminyltransferase II gene (MGAT2) - cloning of genomic DNA, localization to chromosome 14q21, expression in insect cells and purification of the recombinant protein. Eur. J. Biochem. 231:1995;317-328.
-
(1995)
Eur. J. Biochem.
, vol.231
, pp. 317-328
-
-
Tan, J.1
D'Agostaro, G.A.F.2
Bendiak, B.3
Reck, F.4
Sarkar, M.5
Squire, J.A.6
Leong, P.7
Schachter, H.8
-
65
-
-
0017399849
-
Purification and characterization of alpha-D-mannosidase from rat liver golgi membranes
-
Tulsiani D.R., Opheim D.J., Touster O. Purification and characterization of alpha-D-mannosidase from rat liver golgi membranes. J. Biol. Chem. 252:1977;3227-3233.
-
(1977)
J. Biol. Chem.
, vol.252
, pp. 3227-3233
-
-
Tulsiani, D.R.1
Opheim, D.J.2
Touster, O.3
-
66
-
-
0018895863
-
Control of glycoprotein synthesis. V. Processing of asparagine-linked oligosaccharides by one or more rat liver Golgi α-D-mannosidases dependent on the prior action of UDP-N-acetylglucosamine:α-D-mannoside β-2-N-acetylglucosaminyltransferase I
-
Harpaz N., Schachter H. Control of glycoprotein synthesis. V. Processing of asparagine-linked oligosaccharides by one or more rat liver Golgi α-D-mannosidases dependent on the prior action of UDP-N-acetylglucosamine:α-D-mannoside β-2-N-acetylglucosaminyltransferase I. J. Biol. Chem. 255:1980;4894-4902.
-
(1980)
J. Biol. Chem.
, vol.255
, pp. 4894-4902
-
-
Harpaz, N.1
Schachter, H.2
-
67
-
-
0021891884
-
Assembly of asparagine-linked oligosaccharides
-
Kornfeld R., Kornfeld S. Assembly of asparagine-linked oligosaccharides. Annu. Rev. Biochem. 54:1985;631-664.
-
(1985)
Annu. Rev. Biochem.
, vol.54
, pp. 631-664
-
-
Kornfeld, R.1
Kornfeld, S.2
-
68
-
-
0026049185
-
The 'yellow brick road' to branched complex N-glycans
-
Schachter H. The 'yellow brick road' to branched complex N-glycans. Glycobiology. 1:1991;453-461.
-
(1991)
Glycobiology
, vol.1
, pp. 453-461
-
-
Schachter, H.1
-
69
-
-
0027174523
-
Cell type-dependent variations in the subcellular distribution of alpha-mannosidase I and II
-
Velasco A., Hendricks L., Moremen K.W., Tulsiani D., Touster O., Farquhar M.G. Cell type-dependent variations in the subcellular distribution of alpha-mannosidase I and II. J. Cell Biol. 122:1993;39-51.
-
(1993)
J. Cell Biol.
, vol.122
, pp. 39-51
-
-
Velasco, A.1
Hendricks, L.2
Moremen, K.W.3
Tulsiani, D.4
Touster, O.5
Farquhar, M.G.6
-
70
-
-
77956707700
-
HEMPAS: A genetic disorder caused by a defect in N-linked oligosaccharide synthesis
-
in: J. Montreuil, J.F.G. Vliegenthart, H. Schachter (Eds.), Elsevier, Amsterdam, .
-
M.N. Fukuda, HEMPAS: A genetic disorder caused by a defect in N-linked oligosaccharide synthesis, in: J. Montreuil, J.F.G. Vliegenthart, H. Schachter (Eds.), Glycoproteins and Disease, Vol. 30, Elsevier, Amsterdam, 1996, pp. 299-310 .
-
(1996)
Glycoproteins and Disease
, vol.30
, pp. 299-310
-
-
Fukuda, M.N.1
-
72
-
-
0029032795
-
Molecular cloning and expression of cDNA encoding the rat UDP-N-acetylglucosamine:alpha-6-D-mannoside beta-1,2-N-acetylglucosaminyltransferase II
-
D'Agostaro G.A.F., Zingoni A., Moritz R.L., Simpson R.J., Schachter H., Bendiak B. Molecular cloning and expression of cDNA encoding the rat UDP-N-acetylglucosamine:alpha-6-D-mannoside beta-1,2-N-acetylglucosaminyltransferase II. J. Biol. Chem. 270:1995;15211-15221.
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 15211-15221
-
-
D'Agostaro, G.A.F.1
Zingoni, A.2
Moritz, R.L.3
Simpson, R.J.4
Schachter, H.5
Bendiak, B.6
-
73
-
-
0029074067
-
Carbohydrate-deficient glycoprotein syndrome type II - an autosomal recessive N-acetylglucosaminyltransferase II deficiency different from typical hereditary erythroblastic multinuclearity, with a positive acidified-serum lysis test (HEMPAS)
-
Charuk J.H.M., Tan J., Bernardini M., Haddad S., Reithmeier R.A.F., Jaeken J., Schachter H. Carbohydrate-deficient glycoprotein syndrome type II - an autosomal recessive N-acetylglucosaminyltransferase II deficiency different from typical hereditary erythroblastic multinuclearity, with a positive acidified-serum lysis test (HEMPAS). Eur. J. Biochem. 230:1995;797-805.
-
(1995)
Eur. J. Biochem.
, vol.230
, pp. 797-805
-
-
Charuk, J.H.M.1
Tan, J.2
Bernardini, M.3
Haddad, S.4
Reithmeier, R.A.F.5
Jaeken, J.6
Schachter, H.7
-
74
-
-
0029820486
-
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
-
Tan J., Dunn J., 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. 59:1996;810-817.
-
(1996)
Am. J. Hum. Genet.
, vol.59
, pp. 810-817
-
-
Tan, J.1
Dunn, J.2
Jaeken, J.3
Schachter, H.4
-
75
-
-
0001813430
-
Molecular cloning of glycosyltransferase genes
-
in: M. Fukuda, O. Hindsgaul (Eds.), Oxford University Press, Oxford
-
H. Schachter, Molecular cloning of glycosyltransferase genes, in: M. Fukuda, O. Hindsgaul (Eds.), Molecular Glycobiology, Oxford University Press, Oxford, 1994, pp. 88-162.
-
(1994)
Molecular Glycobiology
, pp. 88-162
-
-
Schachter, H.1
-
76
-
-
0031290369
-
Carbohydrate-deficient glycoconjugate (CDG) syndromes: A new chapter of neuropaedriatrics
-
Jaeken J., Casaer P. Carbohydrate-deficient glycoconjugate (CDG) syndromes: a new chapter of neuropaedriatrics. Eur. J. Paediatr. Neurol. 2/3:1997;61-66.
-
(1997)
Eur. J. Paediatr. Neurol.
, vol.23
, pp. 61-66
-
-
Jaeken, J.1
Casaer, P.2
-
78
-
-
0026331891
-
Carbohydrate-deficient transferrin in serum: A new marker of potentially harmful alcohol consumption reviewed
-
Stibler H. Carbohydrate-deficient transferrin in serum: a new marker of potentially harmful alcohol consumption reviewed. Clin. Chem. 37:1991;2029-2037.
-
(1991)
Clin. Chem.
, vol.37
, pp. 2029-2037
-
-
Stibler, H.1
-
80
-
-
0026577583
-
Abnormal galactosylation of complex carbohydrates in cultured fibroblasts from patients with galactose-1-phosphate uridyltransferase deficiency
-
Ornstein K.S., McGuire E.J., Berry G.T., Roth S., Segal S. Abnormal galactosylation of complex carbohydrates in cultured fibroblasts from patients with galactose-1-phosphate uridyltransferase deficiency. Pediatr. Res. 31:1992;508-511.
-
(1992)
Pediatr. Res.
, vol.31
, pp. 508-511
-
-
Ornstein, K.S.1
McGuire, E.J.2
Berry, G.T.3
Roth, S.4
Segal, S.5
-
81
-
-
0031946087
-
Defective galactosylation of serum transferrin in galactosemia
-
Charlwood J., Clayton P., Keir G., Mian N., Winchester B. Defective galactosylation of serum transferrin in galactosemia. Glycobiology. 8:1998;351-357.
-
(1998)
Glycobiology
, vol.8
, pp. 351-357
-
-
Charlwood, J.1
Clayton, P.2
Keir, G.3
Mian, N.4
Winchester, B.5
-
82
-
-
0029995127
-
Carbohydrate deficient glycoprotein syndrome-like transferrin isoelectric focusing pattern in untreated fructosaemia
-
Adamowicz M., Pronicka E. Carbohydrate deficient glycoprotein syndrome-like transferrin isoelectric focusing pattern in untreated fructosaemia. Eur. J. Pediatr. 155:1996;347-348.
-
(1996)
Eur. J. Pediatr.
, vol.155
, pp. 347-348
-
-
Adamowicz, M.1
Pronicka, E.2
-
83
-
-
0029957579
-
Inhibition of phosphomannose isomerase by fructose 1-phosphate: An explanation for defective N-glycosylation in hereditary fructose intolerance
-
Jaeken J., Pirard M., Adamowicz M., Pronicka E., VanSchaftingen E. Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance. Pediatr. Res. 40:1996;764-766.
-
(1996)
Pediatr. Res.
, vol.40
, pp. 764-766
-
-
Jaeken, J.1
Pirard, M.2
Adamowicz, M.3
Pronicka, E.4
Vanschaftingen, E.5
-
84
-
-
0027457737
-
Carbohydrate-deficient glycoprotein syndrome: Normal glycosylation in the fetus
-
Clayton P., Winchester B., Di Tomaso E., Young E., Keir G., Rodeck C. Carbohydrate-deficient glycoprotein syndrome: normal glycosylation in the fetus. Lancet. 341:1993;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
-
85
-
-
0031855851
-
Prenatal diagnosis of the carbohydrate-deficient glycoprotein syndrome type 1A (CDG1A) by a combination of enzymology and genetic linkage analysis after amniocentesis or chorionic villus sampling
-
Charlwood J., Clayton P., Keir G., Mian N., Young E., Winchester B. Prenatal diagnosis of the carbohydrate-deficient glycoprotein syndrome type 1A (CDG1A) by a combination of enzymology and genetic linkage analysis after amniocentesis or chorionic villus sampling. Prenat. Diagn. 18:1998;693-699.
-
(1998)
Prenat. Diagn.
, vol.18
, pp. 693-699
-
-
Charlwood, J.1
Clayton, P.2
Keir, G.3
Mian, N.4
Young, E.5
Winchester, B.6
-
86
-
-
0032528886
-
A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide
-
Burda P., Borsig L., deRijkvanAndel J., Wevers R., Jaeken J., Carchon H., Berger E.G., Aebi M. A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide. J. Clin. Invest. 102:1998;647-652.
-
(1998)
J. Clin. Invest.
, vol.102
, pp. 647-652
-
-
Burda, P.1
Borsig, L.2
Derijkvanandel, J.3
Wevers, R.4
Jaeken, J.5
Carchon, H.6
Berger, E.G.7
Aebi, M.8
-
87
-
-
77956818765
-
Bacterial glycoproteins
-
in: J. Montreuil, J.F.G. Vliegenthart, H. Schachter (Eds.), Elsevier, Amsterdam
-
M. Sumper, F.T. Wieland, Bacterial glycoproteins, in: J. Montreuil, J.F.G. Vliegenthart, H. Schachter (Eds.), Glycoproteins, Vol. 29a, Elsevier, Amsterdam, 1995, pp. 455-473.
-
(1995)
Glycoproteins
, vol.29 A
, pp. 455-473
-
-
Sumper, M.1
Wieland, F.T.2
-
88
-
-
77956828608
-
Protein glycosylation in yeast
-
in: J. Montreuil, J.F.G. Vliegenthart, H. Schachter (Eds.), Elsevier, Amsterdam
-
L. Lehle, W. Tanner, Protein glycosylation in yeast, in: J. Montreuil, J.F.G. Vliegenthart, H. Schachter (Eds.), Glycoproteins, Vol. 29a, Elsevier, Amsterdam, 1995, pp. 475-509.
-
(1995)
Glycoproteins
, vol.29 A
, pp. 475-509
-
-
Lehle, L.1
Tanner, W.2
-
89
-
-
77956677428
-
Glycoproteins of parasites. Glycoproteins of Trypanosoma cruzi
-
in: J. Montreuil, J.F.G. Vliegenthart, H. Schachter (Eds.), Elsevier, Amsterdam
-
B.K. Hayes, G.W. Hart, Glycoproteins of parasites. Glycoproteins of Trypanosoma cruzi, in: J. Montreuil, J.F.G. Vliegenthart, H. Schachter (Eds.), Glycoproteins and Disease, Vol. 30, Elsevier, Amsterdam, 1996, pp. 99-111.
-
(1996)
Glycoproteins and Disease
, vol.30
, pp. 99-111
-
-
Hayes, B.K.1
Hart, G.W.2
-
90
-
-
77956704509
-
Glycoproteins of parasites. Glycoconjugates of Leishmania
-
in: J. Montreuil, J.F.G. Vliegenthart, H. Schachter (Eds.), Elsevier, Amsterdam
-
S.J. Turco, Glycoproteins of parasites. Glycoconjugates of Leishmania, in: J. Montreuil, J.F.G. Vliegenthart, H. Schachter (Eds.), Glycoproteins and Disease, Vol. 30, Elsevier, Amsterdam, 1996, pp. 113-124.
-
(1996)
Glycoproteins and Disease
, vol.30
, pp. 113-124
-
-
Turco, S.J.1
-
91
-
-
77956689496
-
Glycoproteins of parasites. Glycoproteins of malarial parasites
-
in: J. Montreuil, J.F.G. Vliegenthart, H. Schachter (Eds.), Elsevier, Amsterdam
-
A. Dieckmann-Schuppert, P. Gerold, R.T. Schwarz, Glycoproteins of parasites. Glycoproteins of malarial parasites, in: J. Montreuil, J.F.G. Vliegenthart, H. Schachter (Eds.), Glycoproteins and Disease, Vol. 30, Elsevier, Amsterdam, 1996, pp. 125-158.
-
(1996)
Glycoproteins and Disease
, vol.30
, pp. 125-158
-
-
Dieckmann-Schuppert, A.1
Gerold, P.2
Schwarz, R.T.3
-
92
-
-
77956713757
-
Dictyostelium discoideum glycoproteins: using a model system for organismic glycobiology
-
in: J. Montreuil, J.F.G. Vliegenthart, H. Schachter (Eds.), Elsevier, Amsterdam
-
H.H. Freeze, Dictyostelium discoideum glycoproteins: using a model system for organismic glycobiology, in: J. Montreuil, J.F.G. Vliegenthart, H. Schachter (Eds.), Glycoproteins II, Vol. 29b, Elsevier, Amsterdam, 1997 pp. 89-121.
-
(1997)
Glycoproteins II
, vol.29 B
, pp. 89-121
-
-
Freeze, H.H.1
-
93
-
-
0029852531
-
Haemonchus contortus glycoproteins contain N-linked oligosaccharides with novel highly fucosylated core structures
-
Haslam S.M., Coles G.C., Munn E.A., Smith T.S., Smith H.F., Morris H.R., Dell A. Haemonchus contortus glycoproteins contain N-linked oligosaccharides with novel highly fucosylated core structures. J. Biol. Chem. 271:1996;30561-30570.
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 30561-30570
-
-
Haslam, S.M.1
Coles, G.C.2
Munn, E.A.3
Smith, T.S.4
Smith, H.F.5
Morris, H.R.6
Dell, A.7
-
94
-
-
0030989415
-
Characterisation of the phosphorylcholine-containing N-linked oligosaccharides in the excretory-secretory 62 kDa glycoprotein of Acanthocheilonema viteae
-
Haslam S.M., Khoo K.-H., Houston K.M., Harnett W., Morris H.R., Dell A. Characterisation of the phosphorylcholine-containing N-linked oligosaccharides in the excretory-secretory 62 kDa glycoprotein of Acanthocheilonema viteae. Mol. Biochem. Parasitol. 85:1997;53-66.
-
(1997)
Mol. Biochem. Parasitol.
, vol.85
, pp. 53-66
-
-
Haslam, S.M.1
Khoo, K.-H.2
Houston, K.M.3
Harnett, W.4
Morris, H.R.5
Dell, A.6
-
95
-
-
0028036962
-
Novel tyvelose-containing tri- And tetra-antennary N-glycans in the immunodominant antigens of the intracellular parasite Trichinella spiralis
-
Reason A.J., Ellis L.A., Appleton J.A., Wisnewski N., Grieve R.B., McNeil M., Wassom D.L., Morris H.R., Dell A. Novel tyvelose-containing tri- and tetra-antennary N-glycans in the immunodominant antigens of the intracellular parasite Trichinella spiralis. Glycobiology. 4:1994;593-603.
-
(1994)
Glycobiology
, vol.4
, pp. 593-603
-
-
Reason, A.J.1
Ellis, L.A.2
Appleton, J.A.3
Wisnewski, N.4
Grieve, R.B.5
McNeil, M.6
Wassom, D.L.7
Morris, H.R.8
Dell, A.9
-
96
-
-
2042537291
-
Glycoproteins of parasites. Schistosoma glycoconjugates and their role in host-parasite pathological interactions
-
in: J. Montreuil, J.F.G. Vliegenthart, H. Schachter (Eds.), Elsevier, Amsterdam
-
G.J. van Dam, A.M. Deelder, Glycoproteins of parasites. Schistosoma glycoconjugates and their role in host-parasite pathological interactions, in: J. Montreuil, J.F.G. Vliegenthart, H. Schachter (Eds.), Glycoproteins and Disease, Vol. 30, Elsevier, Amsterdam, 1996, pp. 159-182.
-
(1996)
Glycoproteins and Disease
, vol.30
, pp. 159-182
-
-
Van Dam, G.J.1
Deelder, A.M.2
-
97
-
-
0024509990
-
Complex-type asparagine-linked oligosaccharides in glycoproteins synthesized by 'Schistosoma mansoni' adult males contain terminal β-linked 'N'-acetylgalactosamine
-
Nyame K., Smith D.F., Damian R.T., Cummings R.D. Complex-type asparagine-linked oligosaccharides in glycoproteins synthesized by 'Schistosoma mansoni' adult males contain terminal β-linked 'N'-acetylgalactosamine. J. Biol. Chem. 264:(6):1989;3235-3243.
-
(1989)
J. Biol. Chem.
, vol.264
, Issue.6
, pp. 3235-3243
-
-
Nyame, K.1
Smith, D.F.2
Damian, R.T.3
Cummings, R.D.4
-
98
-
-
0026786785
-
Schistosoma mansoni synthesizes novel biantennary Asn-linked oligosaccharides containing terminal beta-linked N-acetylgalactosamine
-
Srivatsan J., Smith D.F., Cummings R.D. Schistosoma mansoni synthesizes novel biantennary Asn-linked oligosaccharides containing terminal beta-linked N-acetylgalactosamine. Glycobiology. 2:1992;445-452.
-
(1992)
Glycobiology
, vol.2
, pp. 445-452
-
-
Srivatsan, J.1
Smith, D.F.2
Cummings, R.D.3
-
99
-
-
0029133814
-
In the biosynthesis of N-glycans in connective tissue of the snail Lymnaea stagnalis, incorporation of GlcNAc by beta 2GlcNAc-transferase I is an essential prerequisite for the action of beta 2GlcNAc-transferase II and beta 2Xyl-transferase
-
Mulder H., Dideberg F., Schachter H., Spronk B.A., De Jong-Brink M., Kamerling J.P., Vliegenthart J.F.G. In the biosynthesis of N-glycans in connective tissue of the snail Lymnaea stagnalis, incorporation of GlcNAc by beta 2GlcNAc-transferase I is an essential prerequisite for the action of beta 2GlcNAc-transferase II and beta 2Xyl-transferase. Eur. J. Biochem. 232:1995;272-283.
-
(1995)
Eur. J. Biochem.
, vol.232
, pp. 272-283
-
-
Mulder, H.1
Dideberg, F.2
Schachter, H.3
Spronk, B.A.4
De Jong-Brink, M.5
Kamerling, J.P.6
Vliegenthart, J.F.G.7
-
100
-
-
77956662160
-
Hemocyanins
-
in: J. Montreuil, J.F.G. Vliegenthart, H. Schachter (Eds.), Elsevier, Amsterdam
-
J.P. Kamerling, J.F.G. Vliegenthart, Hemocyanins, in: J. Montreuil, J.F.G. Vliegenthart, H. Schachter (Eds.), Glycoproteins II, Vol. 29b, Elsevier, Amsterdam, 1997, pp. 123-142.
-
(1997)
Glycoproteins II
, vol.29 B
, pp. 123-142
-
-
Kamerling, J.P.1
Vliegenthart, J.F.G.2
-
101
-
-
77956850407
-
Protein glycosylation in insects
-
in: J. Montreuil, J.F.G. Vliegenthart, H. Schachter (Eds.), Elsevier, Amsterdam
-
März, L., Altmann, F., Staudacher, E., Kubelka, V., Protein glycosylation in insects, in: J. Montreuil, J.F.G. Vliegenthart, H. Schachter (Eds.), Glycoproteins, Vol. 29a, Elsevier, Amsterdam, 1995, pp. 543-563.
-
(1995)
Glycoproteins
, vol.29 A
, pp. 543-563
-
-
März, L.1
Altmann, F.2
Staudacher, E.3
Kubelka, V.4
-
102
-
-
77956678963
-
Fish glycoproteins
-
in: J. Montreuil, J.F.G. Vliegenthart, H. Schachter (Eds.), Elsevier, Amsterdam
-
S. Inoue, Y. Inoue, Fish glycoproteins, in: J. Montreuil, J.F.G. Vliegenthart, H. Schachter (Eds.), Glycoproteins II, Vol. 29b, Elsevier, Amsterdam, 1997, pp. 143-161.
-
(1997)
Glycoproteins II
, vol.29 B
, pp. 143-161
-
-
Inoue, S.1
Inoue, Y.2
-
103
-
-
0017759591
-
Structures of the carbohydrate moiety of ovalbumin glycopeptide III and the difference in specificity of endo-beta-N-acetylglucosaminidases CII and H
-
Tai T., Yamashita K., Ito S., Kobata A. Structures of the carbohydrate moiety of ovalbumin glycopeptide III and the difference in specificity of endo-beta-N-acetylglucosaminidases CII and H. J. Biol. Chem. 252:1977;6687-6694.
-
(1977)
J. Biol. Chem.
, vol.252
, pp. 6687-6694
-
-
Tai, T.1
Yamashita, K.2
Ito, S.3
Kobata, A.4
-
104
-
-
0017899973
-
The structures of the galactose-containing sugar chains of ovalbumin
-
Yamashita K., Tachibana Y., Kobata A. The structures of the galactose-containing sugar chains of ovalbumin. J. Biol. Chem. 253:1978;3862-3869.
-
(1978)
J. Biol. Chem.
, vol.253
, pp. 3862-3869
-
-
Yamashita, K.1
Tachibana, Y.2
Kobata, A.3
-
105
-
-
0020479801
-
Structural study of the carbohydrate moiety of hen ovomucoid. Occurrence of a series of pentaantennary complex-type asparagine-linked sugar chains
-
Yamashita K., Kamerling J.P., Kobata A. Structural study of the carbohydrate moiety of hen ovomucoid. Occurrence of a series of pentaantennary complex-type asparagine-linked sugar chains. J. Biol. Chem. 257:1982;12809-12814.
-
(1982)
J. Biol. Chem.
, vol.257
, pp. 12809-12814
-
-
Yamashita, K.1
Kamerling, J.P.2
Kobata, A.3
-
106
-
-
0025615004
-
Analysis of the oligosaccharides in ovalbumin by high-performance capillary electrophoresis
-
Honda S., Makino A., Suzuki S., Kakehi K. Analysis of the oligosaccharides in ovalbumin by high-performance capillary electrophoresis. Anal. Biochem. 191:1990;228-234.
-
(1990)
Anal. Biochem.
, vol.191
, pp. 228-234
-
-
Honda, S.1
Makino, A.2
Suzuki, S.3
Kakehi, K.4
-
107
-
-
77956853120
-
How can N-linked glycosylation and processing inhibitors be used to study carbohydrate synthesis and function
-
in: J. Montreuil, J.F.G. Vliegenthart, H. Schachter (Eds.), Elsevier, Amsterdam
-
Y.T. Pan, A.D. Elbein, How can N-linked glycosylation and processing inhibitors be used to study carbohydrate synthesis and function, in: J. Montreuil, J.F.G. Vliegenthart, H. Schachter (Eds.), Glycoproteins, Vol. 29a, 1995, Elsevier, Amsterdam, pp. 415-454.
-
(1995)
Glycoproteins
, vol.29 A
, pp. 415-454
-
-
Pan, Y.T.1
Elbein, A.D.2
-
108
-
-
0032904470
-
The dolichol pathway of N-linked glycosylation
-
Burda P., Aebi M. The dolichol pathway of N-linked glycosylation. Biochim. Biophys. Acta. 1426:1999;239-257.
-
(1999)
Biochim. Biophys. Acta
, vol.1426
, pp. 239-257
-
-
Burda, P.1
Aebi, M.2
-
109
-
-
0028012014
-
Mice lacking N-acetylglucosaminyltransferase I activity die at mid-gestation, revealing an essential role for complex or hybrid N-linked carbohydrates
-
Ioffe E., Stanley P. Mice lacking N-acetylglucosaminyltransferase I activity die at mid-gestation, revealing an essential role for complex or hybrid N-linked carbohydrates. Proc. Natl. Acad. Sci. USA. 91:1994;728-732.
-
(1994)
Proc. Natl. Acad. Sci. USA
, vol.91
, pp. 728-732
-
-
Ioffe, E.1
Stanley, P.2
-
110
-
-
0028213962
-
Complex asparagine-linked oligosaccharides are required for morphogenic events during post-implantation development
-
Metzler M., Gertz A., Sarkar M., Schachter H., Schrader J.W., Marth J.D. Complex asparagine-linked oligosaccharides are required for morphogenic events during post-implantation development. EMBO J. 13:1994;2056-2065.
-
(1994)
EMBO J.
, vol.13
, pp. 2056-2065
-
-
Metzler, M.1
Gertz, A.2
Sarkar, M.3
Schachter, H.4
Schrader, J.W.5
Marth, J.D.6
-
111
-
-
0001206809
-
Targeted inactivation of the murine UDP-GlcNAc:alpha-6-D-mannoside beta-1,2-N-acetylglucosaminyltransferase II gene
-
Campbell R., Tan J., Schachter H., Bendiak B., Marth J. Targeted inactivation of the murine UDP-GlcNAc:alpha-6-D-mannoside beta-1,2-N-acetylglucosaminyltransferase II gene. Glycobiology. 7:1997;1050.
-
(1997)
Glycobiology
, vol.7
, pp. 1050
-
-
Campbell, R.1
Tan, J.2
Schachter, H.3
Bendiak, B.4
Marth, J.5
-
112
-
-
0032483438
-
Purification and multimeric structure of bovine N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
-
Kornfeld R., Bao M., Brewer K., Noll C., Canfield W.M. Purification and multimeric structure of bovine N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase. J. Biol. Chem. 273:1998;23203-23210.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 23203-23210
-
-
Kornfeld, R.1
Bao, M.2
Brewer, K.3
Noll, C.4
Canfield, W.M.5
-
114
-
-
0025365591
-
Lysosomal enzyme targeting
-
Kornfeld S. Lysosomal enzyme targeting. Biochem. Soc. Trans. 18:1990;367-374.
-
(1990)
Biochem. Soc. Trans.
, vol.18
, pp. 367-374
-
-
Kornfeld, S.1
-
115
-
-
0029958044
-
Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase. 1. Purification and subunit structure
-
Bao M., Booth J.L., Elmendorf B.J., Canfield W.M. Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase. 1. Purification and subunit structure. J. Biol. Chem. 271:1996;31437-31445.
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 31437-31445
-
-
Bao, M.1
Booth, J.L.2
Elmendorf, B.J.3
Canfield, W.M.4
-
116
-
-
0029906622
-
Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase. 2. Enzymatic characterization and identification of the catalytic subunit
-
Bao M., Elmendorf B.J., Booth J.L., Drake R.R., Canfield W.M. Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase. 2. Enzymatic characterization and identification of the catalytic subunit. J. Biol. Chem. 271:1996;31446-31451.
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 31446-31451
-
-
Bao, M.1
Elmendorf, B.J.2
Booth, J.L.3
Drake, R.R.4
Canfield, W.M.5
-
117
-
-
0026448082
-
Brief report: Recurrent severe infections caused by a novel leukocyte adhesion deficiency
-
Etzioni A., Frydman M., Pollack S., Avidor I., Phillips M.L., Paulson J.C., Gershoni-Baruch R. Brief report: recurrent severe infections caused by a novel leukocyte adhesion deficiency. New Engl. J. Med. 327:1992;1789-1792.
-
(1992)
New Engl. J. Med.
, vol.327
, pp. 1789-1792
-
-
Etzioni, A.1
Frydman, M.2
Pollack, S.3
Avidor, I.4
Phillips, M.L.5
Paulson, J.C.6
Gershoni-Baruch, R.7
-
118
-
-
0029189061
-
Leukocyte adhesion deficiency (LAD) II
-
in: J. Marsh, J.A. Goode (Eds.), John Wiley and Sons, Chichester
-
A. Etzioni, L.M. Phillips, J.C. Paulson, J.M. Harlan, Leukocyte adhesion deficiency (LAD) II, in: J. Marsh, J.A. Goode (Eds.), Cell Adhesion and Human Disease, Vol. 189, John Wiley and Sons, Chichester, 1995, pp. 51-62.
-
(1995)
Cell Adhesion and Human Disease
, vol.189
, pp. 51-62
-
-
Etzioni, A.1
Phillips, L.M.2
Paulson, J.C.3
Harlan, J.M.4
-
119
-
-
0027311329
-
In vivo behavior of neutrophils from two patients with distinct inherited leukocyte adhesion deficiency syndromes
-
Von Andrian U.H., Berger E.M., Ramezani L., Chambers J.D., Ochs H.D., Harlan J.M., Paulson J.C., Etzioni A., Arfors K.E. In vivo behavior of neutrophils from two patients with distinct inherited leukocyte adhesion deficiency syndromes. J. Clin. Invest. 91:1993;2893-2897.
-
(1993)
J. Clin. Invest.
, vol.91
, pp. 2893-2897
-
-
Von Andrian, U.H.1
Berger, E.M.2
Ramezani, L.3
Chambers, J.D.4
Ochs, H.D.5
Harlan, J.M.6
Paulson, J.C.7
Etzioni, A.8
Arfors, K.E.9
-
120
-
-
0028846427
-
Neutrophil adhesion in leukocyte adhesion deficiency syndrome type 2
-
Phillips M.L., Schwartz B.R., Etzioni A., Bayer R., Ochs H.D., Paulson J.C., Harlan J.M. Neutrophil adhesion in leukocyte adhesion deficiency syndrome type 2. J. Clin. Invest. 96:1995;2898-2906.
-
(1995)
J. Clin. Invest.
, vol.96
, pp. 2898-2906
-
-
Phillips, M.L.1
Schwartz, B.R.2
Etzioni, A.3
Bayer, R.4
Ochs, H.D.5
Paulson, J.C.6
Harlan, J.M.7
-
121
-
-
0027485958
-
The carbohydrate-deficient glycoprotein syndromes - an overview
-
Jaeken J., Carchon H. The carbohydrate-deficient glycoprotein syndromes - an overview. J. Inherit. Metab. Dis. 16:1993;813-820.
-
(1993)
J. Inherit. Metab. Dis.
, vol.16
, pp. 813-820
-
-
Jaeken, J.1
Carchon, H.2
-
122
-
-
0026268002
-
The carbohydrate-deficient glycoprotein syndrome: A new inherited multisystemic disease with severe nervous system involvement
-
Jaeken J., Stibler H., Hagberg B. The carbohydrate-deficient glycoprotein syndrome: a new inherited multisystemic disease with severe nervous system involvement. Acta Paediatr. Scand. 375:(Suppl.):1991;1-71.
-
(1991)
Acta Paediatr. Scand.
, vol.375
, Issue.SUPPL.
, pp. 1-71
-
-
Jaeken, J.1
Stibler, H.2
Hagberg, B.3
-
123
-
-
0000070998
-
Carbohydrate-deficient glycoprotein syndrome type Ib - phosphomannose isomerase deficiency and mannose therapy
-
Niehues R., Hasilik M., Alton G., Korner C., SchiebeSukumar M., Koch H.G., Zimmer K.P., Wu R.R., Harms E., Reiter K., vonFigura K., Freeze H.H., Harms H.K., Marquardt T. Carbohydrate-deficient glycoprotein syndrome type Ib - phosphomannose isomerase deficiency and mannose therapy. J. Clin. Invest. 101:1998;1414-1420.
-
(1998)
J. Clin. Invest.
, vol.101
, pp. 1414-1420
-
-
Niehues, R.1
Hasilik, M.2
Alton, G.3
Korner, C.4
Schiebesukumar, M.5
Koch, H.G.6
Zimmer, K.P.7
Wu, R.R.8
Harms, E.9
Reiter, K.10
Vonfigura, K.11
Freeze, H.H.12
Harms, H.K.13
Marquardt, T.14
-
124
-
-
0032492583
-
A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency
-
de Koning T.J., Dorland L., van Diggelen O.P., Boonman A.M.C., de Jong G.J., van Noort W.L., De Schryver J., Duran M., van den Berg I.E.T., Gerwig G.J., Berger R., Poll-The B.T. A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency. Biochem. Biophys. Res. Commun. 245:1998;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.C.4
De Jong, G.J.5
Van Noort, W.L.6
De Schryver, J.7
Duran, M.8
Van Den Berg, I.E.T.9
Gerwig, G.J.10
Berger, R.11
Poll-The, B.T.12
-
125
-
-
17444448342
-
Phosphomannose isomerase deficiency: A carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation
-
Jaeken J., Matthijs G., Saudubray J.M., DionisiVici C., Bertini E., deLonlay P., Henri H., Carchon H., Schollen E., VanSchaftingen E. Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation. Am. J. Hum. Genet. 62:1998;1535-1539.
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 1535-1539
-
-
Jaeken, J.1
Matthijs, G.2
Saudubray, J.M.3
Dionisivici, C.4
Bertini, E.5
Delonlay, P.6
Henri, H.7
Carchon, H.8
Schollen, E.9
Vanschaftingen, E.10
-
126
-
-
0032573176
-
Carbohydrate-deficient glycoprotein syndrome type V: Deficiency of dolichyl-P-Glc:Man(9)GlcNAc(2)-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:Man(9)GlcNAc(2)-PP-dolichyl glucosyltransferase. Proc. Natl. Acad. Sci. USA. 95:1998;13200-13205.
-
(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
-
127
-
-
0023227217
-
Primary defect of congenital dyserythropoietic anemia type II. Failure in glycosylation of erythrocyte lactosaminoglycan-proteins caused by lowered N-acetylglucosaminyltransferase II
-
Fukuda M.N., Dell A., Scartezzini P. Primary defect of congenital dyserythropoietic anemia type II. Failure in glycosylation of erythrocyte lactosaminoglycan-proteins caused by lowered N-acetylglucosaminyltransferase II. J. Biol. Chem. 262:1987;7195-7206.
-
(1987)
J. Biol. Chem.
, vol.262
, pp. 7195-7206
-
-
Fukuda, M.N.1
Dell, A.2
Scartezzini, P.3
-
128
-
-
0025607312
-
HEMPAS disease: Genetic defect of glycosylation
-
Fukuda M.N. HEMPAS disease: genetic defect of glycosylation. Glycobiology. 1:1990;9-15.
-
(1990)
Glycobiology
, vol.1
, pp. 9-15
-
-
Fukuda, M.N.1
-
129
-
-
11944260919
-
Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type II caused by a defect in the gene encoding alpha-mannosidase II
-
Fukuda M.N., Masri K.A., Dell A., Luzzatto L., Moremen K.W. Incomplete synthesis of N-glycans in congenital dyserythropoietic anemia type II caused by a defect in the gene encoding alpha-mannosidase II. Proc. Natl. Acad. Sci. USA. 87:1990;7443-7447.
-
(1990)
Proc. Natl. Acad. Sci. USA
, vol.87
, pp. 7443-7447
-
-
Fukuda, M.N.1
Masri, K.A.2
Dell, A.3
Luzzatto, L.4
Moremen, K.W.5
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