-
1
-
-
0026639813
-
Red blood cell uridine sugar nucleotide levels in patients with classic galactosemia and other metabolic disorders
-
Berry, G.T., Palmieri, M.J., Heales, S., Leonard, J.V. and Segal, S. (1992) Red blood cell uridine sugar nucleotide levels in patients with classic galactosemia and other metabolic disorders. Metabolism, 41, 783-787.
-
(1992)
Metabolism
, vol.41
, pp. 783-787
-
-
Berry, G.T.1
Palmieri, M.J.2
Heales, S.3
Leonard, J.V.4
Segal, S.5
-
2
-
-
0025904178
-
Purification and characterization of a novel broad-specificity (α1→2, α1→3, and a1→6) mannosidase from rat liver
-
Bonay, P. and Hughes, R.C. (1991) Purification and characterization of a novel broad-specificity (α1→2, α1→3, and a1→6) mannosidase from rat liver. Eur J. Biochem., 197, 229-238.
-
(1991)
Eur J. Biochem.
, vol.197
, pp. 229-238
-
-
Bonay, P.1
Hughes, R.C.2
-
3
-
-
0030729377
-
A case of the carbohydrate-deficient glycoprotein syndrome type 1 (CDGS type 1) with normal phosphomannomutase activity
-
Charlwood, J., Clayton, P., Johnson, A., Keir, J., Mian, N. and Winchester, B. (1997) A case of the carbohydrate-deficient glycoprotein syndrome type 1 (CDGS type 1) with normal phosphomannomutase activity. J. Inherit. Metab Dis., 20, 817-827.
-
(1997)
J. Inherit. Metab Dis.
, vol.20
, pp. 817-827
-
-
Charlwood, J.1
Clayton, P.2
Johnson, A.3
Keir, J.4
Mian, N.5
Winchester, B.6
-
4
-
-
0031455984
-
Alpha-mannosidase-II deficiency results in dyserythropoiesis and unveils an alternate pathway in oligosaccharide biosynthesis
-
Chui, D., Oh-Eda, M., Liao, L.-F., Panneerselvam, K., Lal, A., Marek, K.W., Freeze, H.H., Moreman, K., Fukuda, M.N and Marth, J.D. (1997) Alpha-mannosidase-II deficiency results in dyserythropoiesis and unveils an alternate pathway in oligosaccharide biosynthesis. Cell, 90, 157-167.
-
(1997)
Cell
, vol.90
, pp. 157-167
-
-
Chui, D.1
Oh-Eda, M.2
Liao, L.-F.3
Panneerselvam, K.4
Lal, A.5
Marek, K.W.6
Freeze, H.H.7
Moreman, K.8
Fukuda, M.N.9
Marth, J.D.10
-
5
-
-
0029060921
-
Galactosemia: Relationship of IQ to biochemical control and genotype
-
Cleary, M.A., Heptinstall, L.E., Wraith, J.E. and Walte, J.H. (1995) Galactosemia: relationship of IQ to biochemical control and genotype. J. Inher. Metab. Dis., 18, 151-152.
-
(1995)
J. Inher. Metab. Dis.
, vol.18
, pp. 151-152
-
-
Cleary, M.A.1
Heptinstall, L.E.2
Wraith, J.E.3
Walte, J.H.4
-
6
-
-
0028172714
-
Mammalian α-mannosidases - Multiple forms but a common purpose?
-
Daniel, P.F., Winchester, B. and Warren, C.D. (1994) Mammalian α-mannosidases - multiple forms but a common purpose? Glycobiology, 4, 551-566.
-
(1994)
Glycobiology
, vol.4
, pp. 551-566
-
-
Daniel, P.F.1
Winchester, B.2
Warren, C.D.3
-
7
-
-
0025218784
-
Defective galactosylation of proteins in cultured skin fibroblasts from galactosemic patients
-
Dobbie, J.A., Holton, J.B. and Clamp, J.R. (1990) Defective galactosylation of proteins in cultured skin fibroblasts from galactosemic patients. Ann. Clin. Biochem., 27, 315-332.
-
(1990)
Ann. Clin. Biochem.
, vol.27
, pp. 315-332
-
-
Dobbie, J.A.1
Holton, J.B.2
Clamp, J.R.3
-
8
-
-
2642666811
-
Galactosemia
-
Donnell, G.N., Bergren, W.R. and Cleland, R.S. (1960) Galactosemia. Pediatr. Clin. North. Am., 7, 315-332.
-
(1960)
Pediatr. Clin. North. Am.
, vol.7
, pp. 315-332
-
-
Donnell, G.N.1
Bergren, W.R.2
Cleland, R.S.3
-
9
-
-
0027426926
-
Uridine diphosphoglucose content of human erythrocytes: Assessment by conversion to uridine diphosphoglucuronate
-
Gibson, J.B., Reynolds, R.A., Rogers, S., Palmiere, M.J. and Segal, S. (1993) Uridine diphosphoglucose content of human erythrocytes: assessment by conversion to uridine diphosphoglucuronate. J. Pediatr., 123, 906-914.
-
(1993)
J. Pediatr.
, vol.123
, pp. 906-914
-
-
Gibson, J.B.1
Reynolds, R.A.2
Rogers, S.3
Palmiere, M.J.4
Segal, S.5
-
10
-
-
0028033672
-
Uridine diphosphate hexoses in leukocytes and fibroblasts of classic galactosemics and patients with other metabolic diseases
-
Gibson, J.B., Reynolds, R.A., Palmieri, M.J., States, B., Berry, G.T. and Segal, S. (1994) Uridine diphosphate hexoses in leukocytes and fibroblasts of classic galactosemics and patients with other metabolic diseases. Pediatr. Res., 36, 613-618.
-
(1994)
Pediatr. Res.
, vol.36
, pp. 613-618
-
-
Gibson, J.B.1
Reynolds, R.A.2
Palmieri, M.J.3
States, B.4
Berry, G.T.5
Segal, S.6
-
11
-
-
0029119644
-
Galactose-1-phosphate in the pathophysiology of galactosemia
-
Gitzelmann, R. (1995) Galactose-1-phosphate in the pathophysiology of galactosemia. Eur. J. Pediatr., 154, S45-S49.
-
(1995)
Eur. J. Pediatr.
, vol.154
-
-
Gitzelmann, R.1
-
12
-
-
0030571019
-
A rapid high-resolution high-performance liquid chromatographic method for separating glycan mixtures and analyzing oligosaccharide profiles
-
Guile, G.R., Rudd, P.M., Wing, D.R., Prime, S.B. and Dwek, R.A. (1996) A rapid high-resolution high-performance liquid chromatographic method for separating glycan mixtures and analyzing oligosaccharide profiles. Anal. Biochem., 240, 210-226.
-
(1996)
Anal. Biochem.
, vol.240
, pp. 210-226
-
-
Guile, G.R.1
Rudd, P.M.2
Wing, D.R.3
Prime, S.B.4
Dwek, R.A.5
-
13
-
-
0029732809
-
The identification of abnormal glycoforms of serum transferrin in carbohydrate deficient glycoprotein syndrome type 1 by capillary zone electrophoresis
-
Iourin, O., Mattu, T.S., Mian, N., Keir, G., Winchester, B., Dwek, R. and Rudd, P. (1996) The identification of abnormal glycoforms of serum transferrin in carbohydrate deficient glycoprotein syndrome type 1 by capillary zone electrophoresis. Glyco. J., 13, 1031-1042.
-
(1996)
Glyco. J.
, vol.13
, pp. 1031-1042
-
-
Iourin, O.1
Mattu, T.S.2
Mian, N.3
Keir, G.4
Winchester, B.5
Dwek, R.6
Rudd, P.7
-
14
-
-
37049233979
-
Congenital galactosemia, a single enzymatic block in galactose metabolism
-
Isselbacher, K.J, Anderson, E.P., Kurahashi, K., and Kalckar, H.M. (1956) Congenital galactosemia, a single enzymatic block in galactose metabolism. Science, 123, 635-636.
-
(1956)
Science
, vol.123
, pp. 635-636
-
-
Isselbacher, K.J.1
Anderson, E.P.2
Kurahashi, K.3
Kalckar, H.M.4
-
15
-
-
0026492422
-
Serum lysosomal enzyme abnormalities in galactosemia
-
Jaeken, J., Kint, J., and Spaapen, L. (1992) Serum lysosomal enzyme abnormalities in galactosemia. Lancet, 340, 1472-1473.
-
(1992)
Lancet
, vol.340
, pp. 1472-1473
-
-
Jaeken, J.1
Kint, J.2
Spaapen, L.3
-
16
-
-
0026523701
-
Erythrocytic uridine diphosphate galactose in galactosemia
-
Kirkman, HN., Jr. (1992) Erythrocytic uridine diphosphate galactose in galactosemia. J. Inherited Metab. Dis., 15, 4-16.
-
(1992)
J. Inherited Metab. Dis.
, vol.15
, pp. 4-16
-
-
Kirkman Jr., H.N.1
-
17
-
-
0020405880
-
Galactosemia - Thirty years on. the experience of a generation
-
Komrower, G.M. (1982) Galactosemia - thirty years on. The experience of a generation. J. Inherited Metab. Dis., 5, 96-104.
-
(1982)
J. Inherited Metab. Dis.
, vol.5
, pp. 96-104
-
-
Komrower, G.M.1
-
18
-
-
0024463642
-
Deficit of uridine diphosphate galactose in galactosemia
-
Ng, W.G., Xu, Y.K., Kaufman, F.R. and Donnell, G.N. (1989) Deficit of uridine diphosphate galactose in galactosemia. J. Inherit. Metab., 12, 257-266.
-
(1989)
J. Inherit. Metab.
, vol.12
, pp. 257-266
-
-
Ng, W.G.1
Xu, Y.K.2
Kaufman, F.R.3
Donnell, G.N.4
-
19
-
-
0007264575
-
Inhibitor studies on uridine diphosphoglucose pyrophosphorylase
-
Oliver, I.T. (1961) Inhibitor studies on uridine diphosphoglucose pyrophosphorylase. Biochem. Biophys. Acta, 52, 75-81.
-
(1961)
Biochem. Biophys. Acta
, vol.52
, pp. 75-81
-
-
Oliver, I.T.1
-
20
-
-
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. and Segal, S. (1992) Abnormal galactosylation of complex carbohydrates in cultured fibroblasts from patients with galactose-1-phosphate uridyltransferase deficiency. Pediatr. Res., 31, 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
-
21
-
-
0031015317
-
Altered follicle stimulating hormone isoforms in female galactosemia patients
-
Prestoz, L.L., Couto, A.S., Shin, Y.S. and Petry, K.G. (1997) Altered follicle stimulating hormone isoforms in female galactosemia patients. Eur. J. Pediatr., 156, 116-120.
-
(1997)
Eur. J. Pediatr.
, vol.156
, pp. 116-120
-
-
Prestoz, L.L.1
Couto, A.S.2
Shin, Y.S.3
Petry, K.G.4
-
22
-
-
0022527233
-
Glycated haemoglobin and glycated plasma protein, a comparative study
-
Ross, I.S., Mitchell, A.F. and Stroud, R.E. (1986) Glycated haemoglobin and glycated plasma protein, a comparative study. Clin. Chim. Acta, 156, 329-335.
-
(1986)
Clin. Chim. Acta
, vol.156
, pp. 329-335
-
-
Ross, I.S.1
Mitchell, A.F.2
Stroud, R.E.3
-
23
-
-
84920301823
-
Evidence for cell-surface glycosyltransferases. Their potential role in cellular recognition
-
Roth, S., McGuire, E.J. and Roseman, S. (1971) Evidence for cell-surface glycosyltransferases. Their potential role in cellular recognition. J. Cell Biol., 1, 11-24.
-
(1971)
J. Cell Biol.
, vol.1
, pp. 11-24
-
-
Roth, S.1
McGuire, E.J.2
Roseman, S.3
-
24
-
-
0021712680
-
Co-ordination between enzyme specificity and intracellular compartmentation in the control of protein-bound oligosaccharide biosynthesis
-
Schachter, H. (1984) Co-ordination between enzyme specificity and intracellular compartmentation in the control of protein-bound oligosaccharide biosynthesis. Biol. Cell., 51, 133-146.
-
(1984)
Biol. Cell.
, vol.51
, pp. 133-146
-
-
Schachter, H.1
-
25
-
-
0027270602
-
Long-term outcome in 134 patients with galactosemia
-
Schweitzer, S., Shin, Y., Jakobs, C. and Brodehl, J. (1993) Long-term outcome in 134 patients with galactosemia. Eur. J. Pediatr., 152, 36-43.
-
(1993)
Eur. J. Pediatr.
, vol.152
, pp. 36-43
-
-
Schweitzer, S.1
Shin, Y.2
Jakobs, C.3
Brodehl, J.4
-
26
-
-
0029160218
-
Defective galactosylation in galactosemia: Is low cell UDP galactose an explanation?
-
Segal, S. (1995) Defective galactosylation in galactosemia: is low cell UDP galactose an explanation? Eur. J. Pediatr., 154, S65-S71.
-
(1995)
Eur. J. Pediatr.
, vol.154
-
-
Segal, S.1
-
27
-
-
0000029655
-
Disorders of galactose metabolism
-
Scriver, C.R., Beaudet, A.L. Sly, W.S. and Valle, D. (eds.), McGraw-Hill, New York
-
Segal, S. and Berry, G.T. (1995) Disorders of galactose metabolism. In: Scriver, C.R., Beaudet, A.L. Sly, W.S. and Valle, D. (eds.), The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York, pp. 967-1000.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 967-1000
-
-
Segal, S.1
Berry, G.T.2
-
28
-
-
84878788105
-
Studies on glycoconjugates. 64. Complete structure of two carbohydrate units of human serotransferrin
-
Spik, G., Bayard, B., Fournet, B., Strecker, G., Bouquelet, S. and Montreuil, J. (1975) Studies on glycoconjugates. 64. Complete structure of two carbohydrate units of human serotransferrin. FEBS Lett., 50, 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
-
29
-
-
0026331891
-
Carbohydrate deficient transferrin in serum: A new marker of potentially harmful alcoholic consumption
-
Stibler, H. (1991) Carbohydrate deficient transferrin in serum: a new marker of potentially harmful alcoholic consumption. Clin. Chem., 37, 2029-2037.
-
(1991)
Clin. Chem.
, vol.37
, pp. 2029-2037
-
-
Stibler, H.1
-
30
-
-
2642631087
-
Carbohydrate deficient transferrin and galactosemia
-
Van Pelt, J., van der Meer, S.B., Bakker, J.A. and Spaapen, L.J. (1996) Carbohydrate deficient transferrin and galactosemia. J. Inher. Metab. Dis., 19, 65.
-
(1996)
J. Inher. Metab. Dis.
, vol.19
, pp. 65
-
-
Van Pelt, J.1
Van Der Meer, S.B.2
Bakker, J.A.3
Spaapen, L.J.4
-
31
-
-
0025648036
-
Long-term prognosis in galactosemia: Results of a survey of 350 cases
-
Waggoner, D.D., Buist, N.R. and Donnell, G.N. (1990) Long-term prognosis in galactosemia: results of a survey of 350 cases. J. Inher. Metab. Dis., 13, 802-818.
-
(1990)
J. Inher. Metab. Dis.
, vol.13
, pp. 802-818
-
-
Waggoner, D.D.1
Buist, N.R.2
Donnell, G.N.3
-
32
-
-
0028968373
-
The carbohydrate-deficient glycoprotein syndrome an experiment of nature in glycosylation
-
Winchester, B., Clayton, P., Mian, N., di-Tomaso, E., Dell, A., Reason, A. and Keir, G. (1995) The carbohydrate-deficient glycoprotein syndrome an experiment of nature in glycosylation. Biochem. Soc. Trans., 23, 185-188.
-
(1995)
Biochem. Soc. Trans.
, vol.23
, pp. 185-188
-
-
Winchester, B.1
Clayton, P.2
Mian, N.3
Di-Tomaso, E.4
Dell, A.5
Reason, A.6
Keir, G.7
|