-
1
-
-
0000249979
-
-
Jaeken J., Vanderschueren-lodeweyckx M., Casaer P., Snoek L., and Corbeel L. Pediatr. Res. 14 (1980) 179
-
(1980)
Pediatr. Res.
, vol.14
, pp. 179
-
-
Jaeken, J.1
Vanderschueren-lodeweyckx, M.2
Casaer, P.3
Snoek, L.4
Corbeel, L.5
-
2
-
-
0035136834
-
A broad spectrum of clinical presentations in Congenital disorder of glycosylation I: a series of 26 cases
-
de Lonlay P., Seta N., Barrot S., Chabrol B., and Drouin V. A broad spectrum of clinical presentations in Congenital disorder of glycosylation I: a series of 26 cases. J. Med. Genet. 38 (2001) 14-19
-
(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
-
3
-
-
0025744126
-
Sural nerve pathology in the carbohydrate-deficient glycoprotein syndrome
-
Nordborg C., Hagberg B., and Kristiansson B. Sural nerve pathology in the carbohydrate-deficient glycoprotein syndrome. Acta Paediatr. Scand. Suppl. 375 (1991) 39-49
-
(1991)
Acta Paediatr. Scand. Suppl.
, vol.375
, pp. 39-49
-
-
Nordborg, C.1
Hagberg, B.2
Kristiansson, B.3
-
4
-
-
0034110643
-
Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type
-
Imitiaz F., Worthington V., Champion M., Beesley C., and Charlwood J. Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type. J. Inherit. Metab. Dis. 23 (2000) 162-174
-
(2000)
J. Inherit. Metab. Dis.
, vol.23
, pp. 162-174
-
-
Imitiaz, F.1
Worthington, V.2
Champion, M.3
Beesley, C.4
Charlwood, J.5
-
5
-
-
0033911485
-
Carbohydrate-deficient glycoprotein syndrome type 1a: a variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances
-
Van Ommen C.H., Peters M., Barth P.G., Vreken P., and Wanders R.J.A. Carbohydrate-deficient glycoprotein syndrome type 1a: a variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances. J. Pediatr. 136 (2000) 491-495
-
(2000)
J. Pediatr.
, vol.136
, pp. 491-495
-
-
Van Ommen, C.H.1
Peters, M.2
Barth, P.G.3
Vreken, P.4
Wanders, R.J.A.5
-
7
-
-
0037312766
-
Neurological presentation in pediatric patients with Congenital Disorder of Glycosylation type 1a
-
Miossec-Chauvet E., Mikaeloff Y., Heron D., Merzoug V., Cormier-Daire V., de Lonlay P., et al. Neurological presentation in pediatric patients with Congenital Disorder of Glycosylation type 1a. Neuropediatrics 34 (2003) 1-6
-
(2003)
Neuropediatrics
, vol.34
, pp. 1-6
-
-
Miossec-Chauvet, E.1
Mikaeloff, Y.2
Heron, D.3
Merzoug, V.4
Cormier-Daire, V.5
de Lonlay, P.6
-
9
-
-
0031290369
-
Carbohydrate-deficient glycoconjugate (CDG) syndrome: an new chapter of neuropaediatrics
-
Jaeken J., and Casaer P. Carbohydrate-deficient glycoconjugate (CDG) syndrome: an new chapter of neuropaediatrics. Eur. J. Paediatr. Neurol. 2/3 (1997) 61-66
-
(1997)
Eur. J. Paediatr. Neurol.
, vol.2-3
, pp. 61-66
-
-
Jaeken, J.1
Casaer, P.2
-
10
-
-
0025745095
-
Neurological findings in the carbohydrate-deficient glycoprotein syndrome
-
Blennow G., Jaeken J., and Wiklund L.M. Neurological findings in the carbohydrate-deficient glycoprotein syndrome. Acta Paediatr. Scand. Suppl. 375 (1991) 14-20
-
(1991)
Acta Paediatr. Scand. Suppl.
, vol.375
, pp. 14-20
-
-
Blennow, G.1
Jaeken, J.2
Wiklund, L.M.3
-
11
-
-
0035370604
-
Neurological presentation of CDGS-1a: implication for diagnosis and genetic counselling
-
Drouin-Garraud M. Neurological presentation of CDGS-1a: implication for diagnosis and genetic counselling. Am. J. Med. Genet. 101 (2001) 46-49
-
(2001)
Am. J. Med. Genet.
, vol.101
, pp. 46-49
-
-
Drouin-Garraud, M.1
-
12
-
-
84907115934
-
Ocular pathology in disialotransferrin developmental deficiency syndrome
-
Stromland K., Hagberg B., and Kristianson B. Ocular pathology in disialotransferrin developmental deficiency syndrome. Ophtal. Paediat. Genet. 11 (1990) 309-313
-
(1990)
Ophtal. Paediat. Genet.
, vol.11
, pp. 309-313
-
-
Stromland, K.1
Hagberg, B.2
Kristianson, B.3
-
13
-
-
0026095681
-
Full filed electroretinogrammes in patients with carbohydrate-deficient glycoprotein syndrome
-
Andreasson S., Blennow G., Ehinger B., and Stromland K. Full filed electroretinogrammes in patients with carbohydrate-deficient glycoprotein syndrome. Am. J. Ophtal. 112 (1991) 83-89
-
(1991)
Am. J. Ophtal.
, vol.112
, pp. 83-89
-
-
Andreasson, S.1
Blennow, G.2
Ehinger, B.3
Stromland, K.4
-
14
-
-
0029087546
-
Neuroradiological findings in the carbohydrate-deficient glycoprotein syndrome
-
Akaboshi S., Ohno K., and 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
-
15
-
-
0030000096
-
Complex functional and structural coagulation abnormalities in the carbohydrate-deficient glycoprotein syndrome type 1
-
Stibler H., Holzbach U., Tengborn L., and Kristiansson B. Complex functional and structural coagulation abnormalities in the carbohydrate-deficient glycoprotein syndrome type 1. Blood Coag. Fibrin 7 (1996) 118-126
-
(1996)
Blood Coag. Fibrin
, vol.7
, pp. 118-126
-
-
Stibler, H.1
Holzbach, U.2
Tengborn, L.3
Kristiansson, B.4
-
16
-
-
0029843360
-
Haemostatic studies in carbohydrate-deficient glycoprotein syndrome type 1
-
Fiumara A., Barone R., Buttitta P., Musso R., and Pavone L. Haemostatic studies in carbohydrate-deficient glycoprotein syndrome type 1. Thromb. Haemost. 76 4 (1996) 502-504
-
(1996)
Thromb. Haemost.
, vol.76
, Issue.4
, pp. 502-504
-
-
Fiumara, A.1
Barone, R.2
Buttitta, P.3
Musso, R.4
Pavone, L.5
-
17
-
-
0027247682
-
Decreased blood coagulation activities in carbohydrate-deficient glycoprotein syndrome
-
Okamoto N., Wada Y., Kobayashi M., Otani K., and Tagawa T. Decreased blood coagulation activities in carbohydrate-deficient glycoprotein syndrome. J. Inherited Metab. Dis. 16 (1993) 435-440
-
(1993)
J. Inherited Metab. Dis.
, vol.16
, pp. 435-440
-
-
Okamoto, N.1
Wada, Y.2
Kobayashi, M.3
Otani, K.4
Tagawa, T.5
-
18
-
-
0027946312
-
Hemostatic studies in patients with carbohydrate-deficient glycoprotein syndrome
-
Ijima K., Murakami F., Nakamura K., Ikawa S., and Yuasa I. Hemostatic studies in patients with carbohydrate-deficient glycoprotein syndrome. Thromb. Res. 76 2 (1994) 193-198
-
(1994)
Thromb. Res.
, vol.76
, Issue.2
, pp. 193-198
-
-
Ijima, K.1
Murakami, F.2
Nakamura, K.3
Ikawa, S.4
Yuasa, I.5
-
19
-
-
0032889255
-
Coagulation abnormalities in the carbohydrate-deficient Glycoprotein syndrome: case report and review of the literature
-
Young G., and Driscoll C. Coagulation abnormalities in the carbohydrate-deficient Glycoprotein syndrome: case report and review of the literature. Am. J. Hematol. 60 (1999) 66-69
-
(1999)
Am. J. Hematol.
, vol.60
, pp. 66-69
-
-
Young, G.1
Driscoll, C.2
-
20
-
-
0027222950
-
A unique pattern of coagulation abnormalities in carbohydrate-deficient glycoprotein syndrome
-
Van Geet C., and Jaeken J. A unique pattern of coagulation abnormalities in carbohydrate-deficient glycoprotein syndrome. Pediatr. Res. 33 5 (1993) 540-541
-
(1993)
Pediatr. Res.
, vol.33
, Issue.5
, pp. 540-541
-
-
Van Geet, C.1
Jaeken, J.2
-
21
-
-
0028790244
-
Thrombophilia in a child with CDG-syndrome type I
-
Funk M., Becker S., Potzsch B., Kreuz W., and Bohles H. Thrombophilia in a child with CDG-syndrome type I. Thromb. Haemost. 74 4 (1995) 1199-1200
-
(1995)
Thromb. Haemost.
, vol.74
, Issue.4
, pp. 1199-1200
-
-
Funk, M.1
Becker, S.2
Potzsch, B.3
Kreuz, W.4
Bohles, H.5
-
22
-
-
0027398495
-
Early manifestation of the carbohydrate-deficient glycoprotein syndrome
-
Petersen M.B., Brostrom K., Stibler H., and Skovby F. Early manifestation of the carbohydrate-deficient glycoprotein syndrome. J. Pediatr. 122 1 (1993) 66-70
-
(1993)
J. Pediatr.
, vol.122
, Issue.1
, pp. 66-70
-
-
Petersen, M.B.1
Brostrom, K.2
Stibler, H.3
Skovby, F.4
-
23
-
-
0034921209
-
Congenital disorder of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease
-
Briones P., Vilaseca M.A., Garcia-Silva M.T., Pineda M., and Colomer J. Congenital disorder of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease. Eur. J. Paediatr. Neurol. 5 (2001) 127-131
-
(2001)
Eur. J. Paediatr. Neurol.
, vol.5
, pp. 127-131
-
-
Briones, P.1
Vilaseca, M.A.2
Garcia-Silva, M.T.3
Pineda, M.4
Colomer, J.5
-
24
-
-
0028358262
-
Carbohydrate-deficient glycoprotein syndrome: clinical expression in adult with a new metabolic disease
-
Stibler H., Blennow G., Kristiansson B., Lindehammer H., and Hagberg B. Carbohydrate-deficient glycoprotein syndrome: clinical expression in adult with a new metabolic disease. J. Neurol. Neurosurg. Psychiatry 57 5 (1994) 552-556
-
(1994)
J. Neurol. Neurosurg. Psychiatry
, vol.57
, Issue.5
, pp. 552-556
-
-
Stibler, H.1
Blennow, G.2
Kristiansson, B.3
Lindehammer, H.4
Hagberg, B.5
-
25
-
-
0025779295
-
Postmortem findings in two patients with the carbohydrate-deficient Glycoprotein syndrome
-
Stromme P., Maehlen J., Strom E.H., and Torvik A. Postmortem findings in two patients with the carbohydrate-deficient Glycoprotein syndrome. Acta Paediatr. Scand. Suppl. 375 (1991) 55-62
-
(1991)
Acta Paediatr. Scand. Suppl.
, vol.375
, pp. 55-62
-
-
Stromme, P.1
Maehlen, J.2
Strom, E.H.3
Torvik, A.4
-
26
-
-
0023840450
-
The function of the human factor V carbohydrate moiety in blood coagulation
-
Bruin T., Sturk A., Ten Cate J.W., and Cath M. The function of the human factor V carbohydrate moiety in blood coagulation. Eur. J. Biochem. 170 1-2 (1987) 305-310
-
(1987)
Eur. J. Biochem.
, vol.170
, Issue.1-2
, pp. 305-310
-
-
Bruin, T.1
Sturk, A.2
Ten Cate, J.W.3
Cath, M.4
-
27
-
-
0025883206
-
Glycosylation of human protein C affects its secretion, processing, functional activities, and activation by thrombin
-
Grinnel B.W., Walls J.B., and Gerlitz B. Glycosylation of human protein C affects its secretion, processing, functional activities, and activation by thrombin. J. Biol. Chem. 266 (1991) 9778-9785
-
(1991)
J. Biol. Chem.
, vol.266
, pp. 9778-9785
-
-
Grinnel, B.W.1
Walls, J.B.2
Gerlitz, B.3
-
28
-
-
0034660655
-
High levels of factor IX increase the risk of venous thrombosis
-
van Hylckama Vlieg A., van der Linden I.K., Bertina R.M., and Rosendaal F.R. High levels of factor IX increase the risk of venous thrombosis. Blood 95 12 (2000) 3678-3682
-
(2000)
Blood
, vol.95
, Issue.12
, pp. 3678-3682
-
-
van Hylckama Vlieg, A.1
van der Linden, I.K.2
Bertina, R.M.3
Rosendaal, F.R.4
-
29
-
-
2342571555
-
Thrombin-activatable fibrinolysis inhibitor and the risk for recurrent venous thromboembolism
-
Eichinger S., Schonauer V., Weltermann A., Minar E., Bialonczyk C., Hirschl M., et al. Thrombin-activatable fibrinolysis inhibitor and the risk for recurrent venous thromboembolism. Blood 103 10 (2004) 3773-3776
-
(2004)
Blood
, vol.103
, Issue.10
, pp. 3773-3776
-
-
Eichinger, S.1
Schonauer, V.2
Weltermann, A.3
Minar, E.4
Bialonczyk, C.5
Hirschl, M.6
-
30
-
-
33645096053
-
High plasma levels of factor VIII: an important risk factor for isolated pulmonary embolism
-
Erkekol F.O., Ulu A., Numanoglu N., and Akar N. High plasma levels of factor VIII: an important risk factor for isolated pulmonary embolism. Respirology 11 1 (2006) 70-74
-
(2006)
Respirology
, vol.11
, Issue.1
, pp. 70-74
-
-
Erkekol, F.O.1
Ulu, A.2
Numanoglu, N.3
Akar, N.4
-
33
-
-
0026061609
-
Protein C, protein S and C4B-binding protein in severe infection and septic shock
-
Hesselvick J.F., Malm J., Dalhback B., and Blomback M. Protein C, protein S and C4B-binding protein in severe infection and septic shock. Thromb. Haemost. 65 2 (1991) 126-129
-
(1991)
Thromb. Haemost.
, vol.65
, Issue.2
, pp. 126-129
-
-
Hesselvick, J.F.1
Malm, J.2
Dalhback, B.3
Blomback, M.4
-
34
-
-
19244373960
-
Coagulation inhibitor substitution during sepsis
-
Fournier F., Jourdain M., Tournis A., Caron C., Goudemand J., and Chopin C. Coagulation inhibitor substitution during sepsis. Intensive Care Med. 21 S2 (1995) S264-S268
-
(1995)
Intensive Care Med.
, vol.21
, Issue.SUPPL.2
-
-
Fournier, F.1
Jourdain, M.2
Tournis, A.3
Caron, C.4
Goudemand, J.5
Chopin, C.6
-
35
-
-
0034819780
-
Congenital disorder of glycosylation type Ia and IIa are associated with different primary haemostatic complications
-
Van Geet C., Jaeken J., Freson K., Lenaerts T., Arnout J., Vermylen J., and Hoylaerts M.F. Congenital disorder of glycosylation type Ia and IIa are associated with different primary haemostatic complications. J. Inherit. Metab. Dis. 24 4 (2001) 477-492
-
(2001)
J. Inherit. Metab. Dis.
, vol.24
, Issue.4
, pp. 477-492
-
-
Van Geet, C.1
Jaeken, J.2
Freson, K.3
Lenaerts, T.4
Arnout, J.5
Vermylen, J.6
Hoylaerts, M.F.7
|