-
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
-
-
0031946087
-
Defective galactosylation of serum transferrin in galactosemia
-
Charlwood, J., Clayton, P., Keir, G., Mian, N., and Winchester, B. (1998) Defective galactosylation of serum transferrin in galactosemia. Glycobiology, 8, 351-357.
-
(1998)
Glycobiology
, vol.8
, pp. 351-357
-
-
Charlwood, J.1
Clayton, P.2
Keir, G.3
Mian, N.4
Winchester, B.5
-
3
-
-
0019773071
-
Reduction in oocyte number following prenatal exposure to a diet high in galactose
-
Chen, Y.T., Mattison, D.R., Feigenbaum, L., Fukui, H., and Schulman, J.D. (1981) Reduction in oocyte number following prenatal exposure to a diet high in galactose. Science, 214, 1145-1147.
-
(1981)
Science
, vol.214
, pp. 1145-1147
-
-
Chen, Y.T.1
Mattison, D.R.2
Feigenbaum, L.3
Fukui, H.4
Schulman, J.D.5
-
4
-
-
0030860202
-
Physiological and morphological effects of genetic alterations leading to a reduced synthesis of UDP-glucose in Saccharomyces cerevisiae
-
Daran, J.M., Bell, W., and Francois, J. (1997) Physiological and morphological effects of genetic alterations leading to a reduced synthesis of UDP-glucose in Saccharomyces cerevisiae. FEMS Microbiol. Lett., 153, 89-96.
-
(1997)
FEMS Microbiol. Lett.
, vol.153
, pp. 89-96
-
-
Daran, J.M.1
Bell, W.2
Francois, J.3
-
5
-
-
0013946719
-
Regulation of genes controlling synthesis of the galactose pathway enzymes in yeast
-
Douglas, H.C. and Hawthorne, D.C. (1966) Regulation of genes controlling synthesis of the galactose pathway enzymes in yeast. Genetics, 54, 911-916.
-
(1966)
Genetics
, vol.54
, pp. 911-916
-
-
Douglas, H.C.1
Hawthorne, D.C.2
-
6
-
-
0030042361
-
Sequence differences between human muscle and liver cDNAs for UDP-glucose pyrophosphorylase and kinetic properties of the recombinant enzymes expressed in Escherichia coli
-
Duggleby, R.G., Chao, Y.C., Huang, J.G., Peng, H.L., and Chang, H.Y. (1996) Sequence differences between human muscle and liver cDNAs for UDP-glucose pyrophosphorylase and kinetic properties of the recombinant enzymes expressed in Escherichia coli. Eur. J. Biochem., 235, 173-179.
-
(1996)
Eur. J. Biochem.
, vol.235
, pp. 173-179
-
-
Duggleby, R.G.1
Chao, Y.C.2
Huang, J.G.3
Peng, H.L.4
Chang, H.Y.5
-
7
-
-
0030792845
-
Cellular UDP-glucose deficiency caused by a single point mutation in the UDP-glucose pyrophosphorylase gene
-
Flores-Diaz, M., Alape-Giron, A., Persson, B., Pollesello, P., Moos, M., von Eichel-Streiber, C., Thelestam, M., and Florin, I. (1997) Cellular UDP-glucose deficiency caused by a single point mutation in the UDP-glucose pyrophosphorylase gene. J. Biol. Chem., 272, 23784-23791.
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 23784-23791
-
-
Flores-Diaz, M.1
Alape-Giron, A.2
Persson, B.3
Pollesello, P.4
Moos, M.5
von Eichel-Streiber, C.6
Thelestam, M.7
Florin, I.8
-
8
-
-
0032544344
-
UDP-glucose deficiency causes hypersensitivity to the cytotoxic effect of Clostridium perfringens phospholipase C
-
Flores-Diaz, M., Alape-Giron, A., Titball, R.W., Moos, M., Guillouard, I., Cole, S., Howells, A.M., von Eichel-Streiber, C., Florin, I., and Thelestam, M. (1998) UDP-glucose deficiency causes hypersensitivity to the cytotoxic effect of Clostridium perfringens phospholipase C. J. Biol. Chem., 273, 24433-24438.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 24433-24438
-
-
Flores-Diaz, M.1
Alape-Giron, A.2
Titball, R.W.3
Moos, M.4
Guillouard, I.5
Cole, S.6
Howells, A.M.7
von Eichel-Streiber, C.8
Florin, I.9
Thelestam, M.10
-
9
-
-
0029060134
-
Comparison of erythrocyte uridine sugar nucleotide levels in normals, classic galactosemics, and patients with other metabolic disorders
-
Gibson, J.B., Reynolds, R.A., Palmieri, M.J., Berry, G.T., Elsas, L.J., Levy, H.L., and Segal, S. (1995) Comparison of erythrocyte uridine sugar nucleotide levels in normals, classic galactosemics, and patients with other metabolic disorders. Metabolism, 44, 597-604.
-
(1995)
Metabolism
, vol.44
, pp. 597-604
-
-
Gibson, J.B.1
Reynolds, R.A.2
Palmieri, M.J.3
Berry, G.T.4
Elsas, L.J.5
Levy, H.L.6
Segal, S.7
-
10
-
-
0007729987
-
Biogenesis of galactose, possible mechanism of self-intoxication in galactosemia
-
F.A. Hommes and H. van den berg (eds.), Academic Press
-
Gitzelmann, R., Hansen, R.G., and Steinmann, B. (1984) Biogenesis of galactose, possible mechanism of self-intoxication in galactosemia. In F.A. Hommes and H. van den berg (eds.), Normal and pathological development of energy metabolism. Academic Press, London, pp. 25-37.
-
(1984)
Normal and Pathological Development of Energy Metabolism
, pp. 25-37
-
-
Gitzelmann, R.1
Hansen, R.G.2
Steinmann, B.3
-
11
-
-
0012777496
-
Galactose studies in an infant with idiopathic galactose intolerance
-
Greenman, L. and Rathbun, J.C. (1948) Galactose studies in an infant with idiopathic galactose intolerance. Pediatrics, 2, 666.
-
(1948)
Pediatrics
, vol.2
, pp. 666
-
-
Greenman, L.1
Rathbun, J.C.2
-
12
-
-
0033636421
-
Risk factors for premature ovarian failure in females with galactosemia
-
Guerrero, N.V., Singh, R.H., Manatunga, A., Berry, G.T., Steiner, R.D., and Elsas, L.J. (2000) Risk factors for premature ovarian failure in females with galactosemia. J. Pediatrics, 137, 833-841.
-
(2000)
J. Pediatrics
, vol.137
, pp. 833-841
-
-
Guerrero, N.V.1
Singh, R.H.2
Manatunga, A.3
Berry, G.T.4
Steiner, R.D.5
Elsas, L.J.6
-
13
-
-
0035805255
-
Intergrated genomic and proteomic analyses of a systematically perturbed metabolic network
-
Ideker, T., Thorsson, V., Ranish, J.A., Christmas, R., Buhler, J., Eng, J.K., Bumgarner, R., Goodlett, D.R., Aebersold, R., and Hood, L. (2001) Intergrated genomic and proteomic analyses of a systematically perturbed metabolic network. Science, 292, 929-934.
-
(2001)
Science
, vol.292
, pp. 929-934
-
-
Ideker, T.1
Thorsson, V.2
Ranish, J.A.3
Christmas, R.4
Buhler, J.5
Eng, J.K.6
Bumgarner, R.7
Goodlett, D.R.8
Aebersold, R.9
Hood, L.10
-
14
-
-
37049233979
-
Congenital galactosemia, a single enzymatic block in galactose metabolism
-
Isselbacher, K.J., Anderson, E.P., Kurahashi, K., and Kalakar, H.M. (1956) Congenital galactosemia, a single enzymatic block in galactose metabolism. Science, 123, 635.
-
(1956)
Science
, vol.123
, pp. 635
-
-
Isselbacher, K.J.1
Anderson, E.P.2
Kurahashi, K.3
Kalakar, H.M.4
-
15
-
-
0026492422
-
Serum lysosomal enzyme abnormalities in galactosemia
-
Jaeken, J., Kint, J., and Spaaken, 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
Spaaken, L.3
-
16
-
-
0026523701
-
Erythrocytic uridine diphosphate galactose in galactosemia
-
Kirkman, H.N. (1992) Erythrocytic uridine diphosphate galactose in galactosemia. J. Inher. Metab. Dis., 15, 4-16.
-
(1992)
J. Inher. Metab. Dis.
, vol.15
, pp. 4-16
-
-
Kirkman, H.N.1
-
17
-
-
0014962148
-
Uridine diphosphate glucose pyrophosphorylase
-
Knop, J.K. and Hansen, R.G. (1970) Uridine diphosphate glucose pyrophosphorylase. J. Biol. Chem., 245, 2499-2504.
-
(1970)
J. Biol. Chem.
, vol.245
, pp. 2499-2504
-
-
Knop, J.K.1
Hansen, R.G.2
-
18
-
-
77049288110
-
A clinical and biochemical study of galactosemia
-
Komrower, G.M., Schwarz, V., Holzel, A., and Goldberg, L. (1956) A clinical and biochemical study of galactosemia. Arch. Dis. Child., 31, 254.
-
(1956)
Arch. Dis. Child.
, vol.31
, pp. 254
-
-
Komrower, G.M.1
Schwarz, V.2
Holzel, A.3
Goldberg, L.4
-
19
-
-
0034630727
-
Over-expression of human UDP-glucose pyrophosphorylase rescues galactose-1-phosphate uridyltransferase-deficient yeast
-
Lai, K. and Elsas, L.J. (2000) Over-expression of human UDP-glucose pyrophosphorylase rescues galactose-1-phosphate uridyltransferase-deficient yeast. Biochem. Biophys. Res. Commun., 271, 392-400.
-
(2000)
Biochem. Biophys. Res. Commun.
, vol.271
, pp. 392-400
-
-
Lai, K.1
Elsas, L.J.2
-
20
-
-
0033525873
-
Biochemical role of glutamine-188 of human galactose-1-phosphate uridyltransferase
-
Lai, K., Willis, A.C., and Elsas, L.J. (1999) Biochemical role of glutamine-188 of human galactose-1-phosphate uridyltransferase. J. Biol. Chem., 274, 6559-6566.
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 6559-6566
-
-
Lai, K.1
Willis, A.C.2
Elsas, L.J.3
-
21
-
-
0001328767
-
Enzymatic transformation of uridine diphosphate glucose into galactose derivative
-
Leloir, L.F. (1951) Enzymatic transformation of uridine diphosphate glucose into galactose derivative. Arch. Biochem. Biophys., 33, 186-194.
-
(1951)
Arch. Biochem. Biophys.
, vol.33
, pp. 186-194
-
-
Leloir, L.F.1
-
22
-
-
0030273135
-
A mouse model of galactose-1-phosphate deficiency
-
Leslie, N.D., Yager, K.L., McNamara, P.D., and Segal, S. (1996) A mouse model of galactose-1-phosphate deficiency. Biochem. Mol. Med., 59, 7-12.
-
(1996)
Biochem. Mol. Med.
, vol.59
, pp. 7-12
-
-
Leslie, N.D.1
Yager, K.L.2
McNamara, P.D.3
Segal, S.4
-
23
-
-
0023909118
-
Influx and efflux of 3-O-methyl-D-glucose by cultured human fibroblasts
-
Longo, N., Griffin, L.D., and Elsas, L.J. (1988) Influx and efflux of 3-O-methyl-D-glucose by cultured human fibroblasts. Am J Physiol., 254(5 Pt 1), C628-C633.
-
(1988)
Am. J. Physiol.
, vol.254
, Issue.5 PART 1
-
-
Longo, N.1
Griffin, L.D.2
Elsas, L.J.3
-
24
-
-
0032486252
-
The eukaryotic UDP-N-acetylglucosamine pyrophosphorylase
-
Mio, T., Yabe, T., Arisawa, M., and Yamada-Okabe, H. (1998) The eukaryotic UDP-N-acetylglucosamine pyrophosphorylase. J. Biol. Chem., 273, 14392-14397.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 14392-14397
-
-
Mio, T.1
Yabe, T.2
Arisawa, M.3
Yamada-Okabe, H.4
-
25
-
-
0033914738
-
Galactose metabolism by the mouse with galactose-1-phosphate uridyltransferase deficiency
-
Ning, C., Reynolds, R., Chen, J., Yager, C., Berry, G.T., McNamara, P.D., Leslie, N., and Segal, S. (2000) Galactose metabolism by the mouse with galactose-1-phosphate uridyltransferase deficiency. Ped. Res., 48, 211-217.
-
(2000)
Ped. Res.
, vol.48
, pp. 211-217
-
-
Ning, C.1
Reynolds, R.2
Chen, J.3
Yager, C.4
Berry, G.T.5
McNamara, P.D.6
Leslie, N.7
Segal, S.8
-
26
-
-
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. Dis., 12, 257-266.
-
(1989)
J Inherit. Metab. Dis.
, vol.12
, pp. 257-266
-
-
Ng, W.G.1
Xu, Y.K.2
Kaufman, F.R.3
Donnell, G.N.4
-
27
-
-
0007264575
-
Inhibitor studies on uridine diphosphoglucose pyrophosphorylase
-
Oliver, I.T. (1961) Inhibitor studies on uridine diphosphoglucose pyrophosphorylase. Biochim. Biophys. Acta, 52, 75-81.
-
(1961)
Biochim. Biophys. Acta
, vol.52
, pp. 75-81
-
-
Oliver, I.T.1
-
28
-
-
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. Ped. Res., 31, 508-511.
-
(1992)
Ped. Res.
, vol.31
, pp. 508-511
-
-
Ornstein, K.S.1
McGuire, E.J.2
Berry, G.T.3
Roth, S.4
Segal, S.5
-
29
-
-
0026346397
-
Characterization of a novel biochemical abnormality in galactosemia: Deficiency of glycolipids containing galactose or N-acetylgalactosamine and accumulation of precursors in brain and lymphocytes
-
Petry, K., Greinix, H.T., Nudelman, E., Eisen, H., Hakamori, S.-I., Levy, H.L., and Reichardt, J.K.V. (1991) Characterization of a novel biochemical abnormality in galactosemia: deficiency of glycolipids containing galactose or N-acetylgalactosamine and accumulation of precursors in brain and lymphocytes. Biochem. Med. Metab. Biol., 46, 93-104.
-
(1991)
Biochem. Med. Metab. Biol.
, vol.46
, pp. 93-104
-
-
Petry, K.1
Greinix, H.T.2
Nudelman, E.3
Eisen, H.4
Hakamori, S.-I.5
Levy, H.L.6
Reichardt, J.K.V.7
-
30
-
-
0025605875
-
Culture of galactosemic fibroblasts in the presence of galactose: Effect of inosine
-
Pourci, M.L., Mangeot, M., Soni, T., and Lemmonnier, A. (1990) Culture of galactosemic fibroblasts in the presence of galactose: effect of inosine. J. Inherit. Metab. Dis., 13, 819-828.
-
(1990)
J. Inherit. Metab. Dis.
, vol.13
, pp. 819-828
-
-
Pourci, M.L.1
Mangeot, M.2
Soni, T.3
Lemmonnier, A.4
-
31
-
-
0031015317
-
Altered follicle stimulating hormone isoforms in female galactosemic patients
-
Prestoz, L.L.C., Couto, A.S., Shin, Y.S., and Petry, K.G. (1997) Altered follicle stimulating hormone isoforms in female galactosemic patients. Eur. J. Pediatr., 156, 116-120.
-
(1997)
Eur. J. Pediatr.
, vol.156
, pp. 116-120
-
-
Prestoz, L.L.C.1
Couto, A.S.2
Shin, Y.S.3
Petry, K.G.4
-
32
-
-
0023886702
-
Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyltransferase
-
Reichardt, J.K.V. and Berg, P. (1988) Cloning and characterization of a cDNA encoding human galactose-1-phosphate uridyltransferase. Mol. Biol. Med., 5, 107-122.
-
(1988)
Mol. Biol. Med.
, vol.5
, pp. 107-122
-
-
Reichardt, J.K.V.1
Berg, P.2
-
33
-
-
0034532292
-
Outcomes analysis of verbal dyspraxia in classic galactosemia
-
Robertson, A., Singh, R.H., Guerrero, N.V., Hundley, M., and Elsas, L.J. (2000) Outcomes analysis of verbal dyspraxia in classic galactosemia. Genet. Med., 2, 142-148.
-
(2000)
Genet. Med.
, vol.2
, pp. 142-148
-
-
Robertson, A.1
Singh, R.H.2
Guerrero, N.V.3
Hundley, M.4
Elsas, L.J.5
-
34
-
-
0014403272
-
The specificity of UDP-glucose 4-epimerase from the yeast Saccharomyces fragilis
-
Salo, W., Nordin, J., Peterson, D., Bevill, R., and Kirkwood, S. (1968) The specificity of UDP-glucose 4-epimerase from the yeast Saccharomyces fragilis. Biochim. Biophys. Acta, 151, 484.
-
(1968)
Biochim. Biophys. Acta
, vol.151
, pp. 484
-
-
Salo, W.1
Nordin, J.2
Peterson, D.3
Bevill, R.4
Kirkwood, S.5
-
35
-
-
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(suppl 2), S65-S71.
-
(1995)
Eur. J. Pediatr.
, vol.154
, Issue.SUPPL. 2
-
-
Segal, S.1
-
36
-
-
0000029655
-
Disorders of galactose metabolism
-
Scriver, D., Beaudet, A., Sly, W., and Valle, D. (eds.), McGraw-Hill, New York
-
Segal, S. and Berry, G.T. (1995) Disorders of galactose metabolism. In Scriver, D., Beaudet, A., Sly, W., and Valle, D. (eds.), The metabolic basis of inherited disease. McGraw-Hill, New York, pp. 967-1000.
-
(1995)
The Metabolic Basis of Inherited Disease
, pp. 967-1000
-
-
Segal, S.1
Berry, G.T.2
-
37
-
-
0023644482
-
Fractionation of sialylated oligosaccharides, glycopeptides, glycoproteins on immobilized elderberry (Sambucus nigra L) bark lectins
-
Shibuya, N., Goldstein, I.J., Broeknaert, W.F., Nsimba-Lubaki, M., Peeters, B., and Peumans, W.J. (1987) Fractionation of sialylated oligosaccharides, glycopeptides, glycoproteins on immobilized elderberry (Sambucus nigra L) bark lectins. J. Biol. Chem., 262, 1596-1601.
-
(1987)
J. Biol. Chem.
, vol.262
, pp. 1596-1601
-
-
Shibuya, N.1
Goldstein, I.J.2
Broeknaert, W.F.3
Nsimba-Lubaki, M.4
Peeters, B.5
Peumans, W.J.6
-
38
-
-
0024234652
-
Patterns of serum glucose and galactose concentrations in term newborn infants after milk feeding
-
Siegel, C.D., Sparks, J.W., and Battaglia, F.C. (1988) Patterns of serum glucose and galactose concentrations in term newborn infants after milk feeding. Biol. Neonate, 54, 301.
-
(1988)
Biol. Neonate
, vol.54
, pp. 301
-
-
Siegel, C.D.1
Sparks, J.W.2
Battaglia, F.C.3
-
39
-
-
0025648036
-
Long-term prognosis in galactosemia; results of a survey of 350 cases
-
Waggoner, D.D., Buist, N.R.M., and Donnell, G.N. (1990) Long-term prognosis in galactosemia; results of a survey of 350 cases. J. Inherit. Metab. Dis., 13, 802-818.
-
(1990)
J. Inherit. Metab. Dis.
, vol.13
, pp. 802-818
-
-
Waggoner, D.D.1
Buist, N.R.M.2
Donnell, G.N.3
-
40
-
-
0030869976
-
Biochemical characterization of the S135L-allele of galactose-1-phosphate uridyltransferase associated with galactosemia
-
Wells, L. and Fridovich-Keil, J. (1997) Biochemical characterization of the S135L-allele of galactose-1-phosphate uridyltransferase associated with galactosemia. J. Inherit. Metab. Dis., 20, 633-642.
-
(1997)
J. Inherit. Metab. Dis.
, vol.20
, pp. 633-642
-
-
Wells, L.1
Fridovich-Keil, J.2
-
41
-
-
0033745216
-
Studies of the V94M substitution in human UDP-galactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosemia
-
Wholers, T.M. and Fridovich-Keil, J.L. (2000) Studies of the V94M substitution in human UDP-galactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosemia. J. Inherit. Metab. Dis., 23, 713-729.
-
(2000)
J. Inherit. Metab. Dis.
, vol.23
, pp. 713-729
-
-
Wholers, T.M.1
Fridovich-Keil, J.L.2
-
42
-
-
0029090524
-
HPLC analysis of uridine diphosphate sugars: Decreased concentrations of uridine diphosphate galactose in erythrocytes and cultured skin fibroblasts from classic galactosemia patients
-
Xu, Y.K., Kaufman, F.R., Donnell, G.N., Giudici, T., Alfi, O., and Ng, W.G. (1995) HPLC analysis of uridine diphosphate sugars: decreased concentrations of uridine diphosphate galactose in erythrocytes and cultured skin fibroblasts from classic galactosemia patients. Clin. Chim. Acta, 240, 21-33.
-
(1995)
Clin. Chim. Acta
, vol.240
, pp. 21-33
-
-
Xu, Y.K.1
Kaufman, F.R.2
Donnell, G.N.3
Giudici, T.4
Alfi, O.5
Ng, W.G.6
|