-
1
-
-
0025775843
-
Biochemical characteristics anddiagnosis of the carbohydrate-deficient glycoprotein (CDG) syndrome
-
Stibler H, Jacken J, Kristiansson B. Biochemical characteristics anddiagnosis of the carbohydrate-deficient glycoprotein (CDG) syndrome. Acta Paediatr Scand 1991; 80 Suppl 375: 21-31
-
(1991)
Acta Paediatr Scand
, vol.80
, Issue.375 SUPPL.
, pp. 21-31
-
-
Stibler, H.1
Jacken, J.2
Kristiansson, B.3
-
2
-
-
0027290048
-
The carbohydrate-deficient glycoprotein syndromes: A peculiar group of new disorders
-
Hagberg B, Blennow G, Kristiansson B, Stibler H. The carbohydrate-deficient glycoprotein syndromes: A peculiar group of new disorders. Pediatr Neurol 1993; 9: 255-62
-
(1993)
Pediatr Neurol
, vol.9
, pp. 255-262
-
-
Hagberg, B.1
Blennow, G.2
Kristiansson, B.3
Stibler, H.4
-
3
-
-
0027440619
-
The carbohydrate-deficient glycoprotein syndromes: Pre-Golsi or Golgi disorders?
-
Jacken J, Carchon H, Stibler H. The carbohydrate-deficient glycoprotein syndromes: Pre-Golsi or Golgi disorders? Glycobiology 1993; 3: 423-8
-
(1993)
Glycobiology
, vol.3
, pp. 423-428
-
-
Jacken, J.1
Carchon, H.2
Stibler, H.3
-
4
-
-
0027485958
-
The carbohydrate-deficient glycoprotein syndromes: An overview
-
Jaeken J, Carchon H. The carbohydrate-deficient glycoprotein syndromes: An overview. J Inher Metab Dis 1993; 16: 813-20
-
(1993)
J Inher Metab Dis
, vol.16
, pp. 813-820
-
-
Jaeken, J.1
Carchon, H.2
-
5
-
-
84889186445
-
The activity of galactose I phosphate uridyl transferase and galactokinase in human fetal organs
-
Buhring YS, Beier T, Tan A, Osang M, Schaub J. The activity of galactose I phosphate uridyl transferase and galactokinase in human fetal organs. Pediatr Res 1977; 11: 1043-51
-
(1977)
Pediatr Res
, vol.11
, pp. 1043-1051
-
-
Buhring, Y.S.1
Beier, T.2
Tan, A.3
Osang, M.4
Schaub, J.5
-
6
-
-
0027478496
-
Diagnosis of the carbohydrate-deficient glycoprotein (CDG) syndrome by analysis of transferrin in filter paper blood spots
-
Stibler H, Cederberg B. Diagnosis of the carbohydrate-deficient glycoprotein (CDG) syndrome by analysis of transferrin in filter paper blood spots. Acta Paediatr 1993; 82: 60-5
-
(1993)
Acta Paediatr
, vol.82
, pp. 60-65
-
-
Stibler, H.1
Cederberg, B.2
-
7
-
-
0030000096
-
Complex functional and structural coagulation abnormalities in the carbohydrate-deficient glycoprotein syndrome
-
Stibler H, Holzbach U, Tengborn L, Kristiansson B. Complex functional and structural coagulation abnormalities in the carbohydrate-deficient glycoprotein syndrome. Blood Coag Fibrinol 1996; 7: 118-26
-
(1996)
Blood Coag Fibrinol
, vol.7
, pp. 118-126
-
-
Stibler, H.1
Holzbach, U.2
Tengborn, L.3
Kristiansson, B.4
-
8
-
-
0020317484
-
Simultaneous quantitative estimation of galactose-1-phosphate and galactose in blood for the diagnosis of galactosemia
-
Fujimura Y, Kawamura M, Naruse H. Simultaneous quantitative estimation of galactose-1-phosphate and galactose in blood for the diagnosis of galactosemia. Tohoku J Exp Med 1982; 137: 289-95
-
(1982)
Tohoku J Exp Med
, vol.137
, pp. 289-295
-
-
Fujimura, Y.1
Kawamura, M.2
Naruse, H.3
-
9
-
-
0022552050
-
Microassay for estimation of galactose and galactose-1-phosphate in dried blood specimens
-
Orfanos A, Jinks D, Guthrie R. Microassay for estimation of galactose and galactose-1-phosphate in dried blood specimens. Clin Biochem 1986; 19: 225-8
-
(1986)
Clin Biochem
, vol.19
, pp. 225-228
-
-
Orfanos, A.1
Jinks, D.2
Guthrie, R.3
-
10
-
-
0025975369
-
Glycosyltransferase activities in serum in alcoholic patients and healthy controls
-
Stibler H, Borg S. Glycosyltransferase activities in serum in alcoholic patients and healthy controls. Scand J Clin Lab Invest 1991; 51: 43-51
-
(1991)
Scand J Clin Lab Invest
, vol.51
, pp. 43-51
-
-
Stibler, H.1
Borg, S.2
-
11
-
-
0024463642
-
Deficit of uridine diphosphate galactose in galactosemia
-
Ng W, Xu Y, Kauffman F, Donnell G. Deficit of uridine diphosphate galactose in galactosemia. J Inher Metab Dis 1989; 12: 257-66
-
(1989)
J Inher Metab Dis
, vol.12
, pp. 257-266
-
-
Ng, W.1
Xu, Y.2
Kauffman, F.3
Donnell, G.4
-
12
-
-
0029060134
-
Comparison of erythrocyte uridine sugar nucleotide levels in normals, classic galactosemics, and patients with other metabolic disorders
-
Gibson J, Reynolds R, Palmieri M, Berry G, Elsas L, Levy H, Segal S. Comparison of erythrocyte uridine sugar nucleotide levels in normals, classic galactosemics, and patients with other metabolic disorders. Metabol Clin Exp 1995; 44: 597-604
-
(1995)
Metabol Clin Exp
, vol.44
, pp. 597-604
-
-
Gibson, J.1
Reynolds, R.2
Palmieri, M.3
Berry, G.4
Elsas, L.5
Levy, H.6
Segal, S.7
-
13
-
-
0026346397
-
Characterisation of a novel biochemical abnormality in galactosemia: Deficiency of glycolipids containing galactose or N-acetylgalacosamine and accumulation of precursors in brain and lymphocytes
-
Petrym K, Greinis H, Nudelman E, Eisen H, Hakamori S, Levy H, Reichardt J. Characterisation of a novel biochemical abnormality in galactosemia: deficiency of glycolipids containing galactose or N-acetylgalacosamine and accumulation of precursors in brain and lymphocytes. Biochem Med Metabol Biol 1991; 46: 93-104
-
(1991)
Biochem Med Metabol Biol
, vol.46
, pp. 93-104
-
-
Petrym, K.1
Greinis, H.2
Nudelman, E.3
Eisen, H.4
Hakamori, S.5
Levy, H.6
Reichardt, J.7
-
14
-
-
0025648036
-
Long-term prognosis in galactosemia. Results of a survey of 350 cases
-
Waggoner D, Buist N, Donnell G. Long-term prognosis in galactosemia. Results of a survey of 350 cases. J Inher Metab Dis 1990; 13: 802-18
-
(1990)
J Inher Metab Dis
, vol.13
, pp. 802-818
-
-
Waggoner, D.1
Buist, N.2
Donnell, G.3
|