-
1
-
-
0000029655
-
Disorders of galactose metabolism
-
Scriver CH, Beaudet AL, Sly WS, Valle D (eds): New York, NY, McGraw-Hill
-
Segal S, Berry GT: Disorders of galactose metabolism, in Scriver CH, Beaudet AL, Sly WS, Valle D (eds): The Metabolic Basis of Inherited Diseases (ed 7). New York, NY, McGraw-Hill, 1995, pp 967-1000
-
(1995)
The Metabolic Basis of Inherited Diseases (Ed 7)
, pp. 967-1000
-
-
Segal, S.1
Berry, G.T.2
-
2
-
-
0013973283
-
Galactitol in the tissues of a galactosemic child
-
Quan Ma R, Wells HJ, Wells WW: Galactitol in the tissues of a galactosemic child. Am J Dis Child 112:477-478, 1966
-
(1966)
Am J Dis Child
, vol.112
, pp. 477-478
-
-
Quan Ma, R.1
Wells, H.J.2
Wells, W.W.3
-
3
-
-
0013849886
-
The distribution of galactitol in tissues of rats fed galactose
-
Quan Ma R, Wells WW: The distribution of galactitol in tissues of rats fed galactose. Biochem Biophys Res Commun 20:486-490, 1965
-
(1965)
Biochem Biophys Res Commun
, vol.20
, pp. 486-490
-
-
Quan Ma, R.1
Wells, W.W.2
-
4
-
-
0014044694
-
Galactitol and galactose-1-phosphate in the lens of a galactosemic infant
-
Gitzelmann R, Curtis HC, Schneller I: Galactitol and galactose-1-phosphate in the lens of a galactosemic infant. Exp Eye Res 6:1-3, 1967
-
(1967)
Exp Eye Res
, vol.6
, pp. 1-3
-
-
Gitzelmann, R.1
Curtis, H.C.2
Schneller, I.3
-
5
-
-
0000841548
-
Formation of polyols by the lens of the rat with sugar cataracts
-
Van Heyaingen R: Formation of polyols by the lens of the rat with sugar cataracts. Nature 184:194-205, 1959
-
(1959)
Nature
, vol.184
, pp. 194-205
-
-
Van Heyaingen, R.1
-
6
-
-
0016243140
-
Mechanisms initiating cataract formation
-
Kinoshita JH: Mechanisms initiating cataract formation. Invest Ophthalmol 13:713-724, 1974
-
(1974)
Invest Ophthalmol
, vol.13
, pp. 713-724
-
-
Kinoshita, J.H.1
-
7
-
-
0029116445
-
The role of polyols in the pathophysiology of hypergalactosemia
-
Berry GT: The role of polyols in the pathophysiology of hypergalactosemia. Eur J Pediatr 154:S53-S64, 1995 (suppl)
-
(1995)
Eur J Pediatr
, vol.154
, Issue.SUPPL.
-
-
Berry, G.T.1
-
8
-
-
0015608381
-
Urinary galactitol in galactosemic patients
-
Roe TF, Ng WG, Bergren WR, et al: Urinary galactitol in galactosemic patients. Biochem Med 7:266-273, 1973
-
(1973)
Biochem Med
, vol.7
, pp. 266-273
-
-
Roe, T.F.1
Ng, W.G.2
Bergren, W.R.3
-
9
-
-
84995069405
-
Urinary and severe galactitol in galactosemic patients
-
Yamazaki T, Makato M, Hayashi M: Urinary and severe galactitol in galactosemic patients. Acta Paediatr Jpn 33:61-70, 1991
-
(1991)
Acta Paediatr Jpn
, vol.33
, pp. 61-70
-
-
Yamazaki, T.1
Makato, M.2
Hayashi, M.3
-
12
-
-
0028968325
-
A strategy to identify new biochemical phenotypes and molecular genotypes
-
Elsas LJ, Langley SD, Steele E, et al: A strategy to identify new biochemical phenotypes and molecular genotypes. Am J Hum Genet 56:636-639, 1995
-
(1995)
Am J Hum Genet
, vol.56
, pp. 636-639
-
-
Elsas, L.J.1
Langley, S.D.2
Steele, E.3
-
13
-
-
0030703213
-
Urinary galactonate in patients with galactosemia: Quantitation by nuclear magnetic spectroscopy
-
Wehrli SL, Berry GT, Palmieri JM, et al: Urinary galactonate in patients with galactosemia: Quantitation by nuclear magnetic spectroscopy. Pediatr Res 42:855-861, 1997
-
(1997)
Pediatr Res
, vol.42
, pp. 855-861
-
-
Wehrli, S.L.1
Berry, G.T.2
Palmieri, J.M.3
-
14
-
-
0030605504
-
Simultaneous metabolic profile studies of three patients with fatal infantile mitochondrial myopathy-de Toni-Fanconi-Debre syndrome by GC/MS
-
Ning C, Kuhara T, Matsumoto I: Simultaneous metabolic profile studies of three patients with fatal infantile mitochondrial myopathy-de Toni-Fanconi-Debre syndrome by GC/MS. Clin Chim Acta 247:197-200, 1996
-
(1996)
Clin Chim Acta
, vol.247
, pp. 197-200
-
-
Ning, C.1
Kuhara, T.2
Matsumoto, I.3
-
15
-
-
0015165474
-
A fluorometric method for the assay of galactose-1-phosphate in red blood cells
-
Dhalquist A: A fluorometric method for the assay of galactose-1-phosphate in red blood cells. J Lab Clin Invest 78:931-938, 1971
-
(1971)
J Lab Clin Invest
, vol.78
, pp. 931-938
-
-
Dhalquist, A.1
-
16
-
-
0022454037
-
Capillary gas chromatographic profiling of urinary, plasma and erythrocyte sugars and polyols as their trimethylsilyl derivatives, preceded by a simple and rapid prepurification method
-
Jansen G, Muskiet FAJ, Schierbeek H, et al: Capillary gas chromatographic profiling of urinary, plasma and erythrocyte sugars and polyols as their trimethylsilyl derivatives, preceded by a simple and rapid prepurification method. Clin Chim Acta 157:277-294, 1986
-
(1986)
Clin Chim Acta
, vol.157
, pp. 277-294
-
-
Jansen, G.1
Muskiet, F.A.J.2
Schierbeek, H.3
-
17
-
-
0027270602
-
Long-term outcome in 134 patients with galactosemia
-
Schweitzer S, Shin Y, Jakobs C, et al: Long-term outcome in 134 patients with galactosemia. Eur J Pediatr 152:36-43, 1993
-
(1993)
Eur J Pediatr
, vol.152
, pp. 36-43
-
-
Schweitzer, S.1
Shin, Y.2
Jakobs, C.3
-
18
-
-
0030051198
-
A prevalent mutation for galactosemia among black Americans
-
Lai K, Langley SD, Singh RH, et al: A prevalent mutation for galactosemia among black Americans. J Pediatr 128:89-95, 1996
-
(1996)
J Pediatr
, vol.128
, pp. 89-95
-
-
Lai, K.1
Langley, S.D.2
Singh, R.H.3
-
19
-
-
0000814750
-
Galactosemia: Symptomatic and asymptomatic homozygotes in one Negro sibship
-
Baker L, Mellman WJ, Tedesco TA, et al: Galactosemia: Symptomatic and asymptomatic homozygotes in one Negro sibship. J Pediatr 68:551-558, 1966
-
(1966)
J Pediatr
, vol.68
, pp. 551-558
-
-
Baker, L.1
Mellman, W.J.2
Tedesco, T.A.3
-
20
-
-
0014852227
-
Characteristics of galactose-1-phosphate uridyltransferase in intestinal mucosa of normal and galactosemic humans
-
Rogers S, Holtzapple PG, Mellman WJ, et al: Characteristics of galactose-1-phosphate uridyltransferase in intestinal mucosa of normal and galactosemic humans. Metabolism 19:701-708, 1970
-
(1970)
Metabolism
, vol.19
, pp. 701-708
-
-
Rogers, S.1
Holtzapple, P.G.2
Mellman, W.J.3
-
21
-
-
0015025404
-
Liver galactose-1-phosphate uridyltransferase: Activity in normal and galactosemic subjects
-
Segal S, Rogers S, Holtzapple PG: Liver galactose-1-phosphate uridyltransferase: Activity in normal and galactosemic subjects. J Clin Invest 50:500-506, 1971
-
(1971)
J Clin Invest
, vol.50
, pp. 500-506
-
-
Segal, S.1
Rogers, S.2
Holtzapple, P.G.3
-
23
-
-
0028879596
-
Endogenous synthesis of galactose in normal man and patients with hereditary galactosemia
-
Berry GT, Nissim I, Lin Z, et al: Endogenous synthesis of galactose in normal man and patients with hereditary galactosemia. Lancet 346:1073-1074, 1995
-
(1995)
Lancet
, vol.346
, pp. 1073-1074
-
-
Berry, G.T.1
Nissim, I.2
Lin, Z.3
-
24
-
-
0000930578
-
Isolation and properties of lens aldose reductase
-
Hayman S, Kinoshita JH: Isolation and properties of lens aldose reductase. J Biol Chem 210:877-882, 1965
-
(1965)
J Biol Chem
, vol.210
, pp. 877-882
-
-
Hayman, S.1
Kinoshita, J.H.2
-
25
-
-
0024333867
-
The aldo-keto reductase superfamily. cDNA's and deduced amino acid sequences of human aldehyde and aldose reductase
-
Bohren KM, Bullock B, Gably WB: The aldo-keto reductase superfamily. cDNA's and deduced amino acid sequences of human aldehyde and aldose reductase. J Biol Chem 264:9547-9551, 1989
-
(1989)
J Biol Chem
, vol.264
, pp. 9547-9551
-
-
Bohren, K.M.1
Bullock, B.2
Gably, W.B.3
-
26
-
-
0025341976
-
Cloning and prokaryotic expression of a biologically active human placental aldose reductase
-
Grundmann U, Bohn U, Obermeier R, et al: Cloning and prokaryotic expression of a biologically active human placental aldose reductase. DNA Cell Biol 9:149-157, 1990
-
(1990)
DNA Cell Biol
, vol.9
, pp. 149-157
-
-
Grundmann, U.1
Bohn, U.2
Obermeier, R.3
-
27
-
-
0015972305
-
Galactose metabolism in a patient with hereditary galactokinase deficiency
-
Gitzelmann R, Wells HJ, Segal S: Galactose metabolism in a patient with hereditary galactokinase deficiency. Eur J Clin Invest 4:79-84, 1974
-
(1974)
Eur J Clin Invest
, vol.4
, pp. 79-84
-
-
Gitzelmann, R.1
Wells, H.J.2
Segal, S.3
-
28
-
-
0027476691
-
The effect of dietary fruits and vegetables on urinary galactitol excretion in galactose-1-phosphate uridyltransferase deficiency
-
Berry GT, Palmieri MJ, Gross K, et al: The effect of dietary fruits and vegetables on urinary galactitol excretion in galactose-1-phosphate uridyltransferase deficiency. J Inherit Metab Dis 16:91-100, 1993
-
(1993)
J Inherit Metab Dis
, vol.16
, pp. 91-100
-
-
Berry, G.T.1
Palmieri, M.J.2
Gross, K.3
-
30
-
-
0022366186
-
Galactose and galactitol in the urine of children with compound heterozygosity for Duarte variant and classic galactosemia after an oral galactose load
-
Schwarz HP, Schaefer T, Bachman C: Galactose and galactitol in the urine of children with compound heterozygosity for Duarte variant and classic galactosemia after an oral galactose load. Clin Chem 31:420-422, 1985
-
(1985)
Clin Chem
, vol.31
, pp. 420-422
-
-
Schwarz, H.P.1
Schaefer, T.2
Bachman, C.3
-
31
-
-
0014031188
-
Galactose conversion to D-xylulose: An alternate route of galactose metabolism
-
Cuatrecasas P, Segal S: Galactose conversion to D-xylulose: An alternate route of galactose metabolism. Science 153:549-551, 1966
-
(1966)
Science
, vol.153
, pp. 549-551
-
-
Cuatrecasas, P.1
Segal, S.2
-
32
-
-
0001511188
-
14C galactose by patients with congenital galactosemia: Evidence for a direct oxidative pathway
-
14C galactose by patients with congenital galactosemia: Evidence for a direct oxidative pathway. Am J Med 44:340-347, 1968
-
(1968)
Am J Med
, vol.44
, pp. 340-347
-
-
Segal, S.1
Cuatrecasas, P.2
-
33
-
-
84895292029
-
Hereditary galactose kinase deficiency, a newly recognized form of juvenile cataracts
-
Gitzelmann R: Hereditary galactose kinase deficiency, a newly recognized form of juvenile cataracts. Pediatr Res 1:14-23, 1967
-
(1967)
Pediatr Res
, vol.1
, pp. 14-23
-
-
Gitzelmann, R.1
-
34
-
-
0020057420
-
Galactose cataract prevention with sorbinil, an aldose reductase inhibitor. A light microscopic study
-
Datiles MB, Fukui H, Kuwabora T, et al: Galactose cataract prevention with sorbinil, an aldose reductase inhibitor. A light microscopic study. Invest Ophthalmol Vis Sci 22:174-179, 1982
-
(1982)
Invest Ophthalmol Vis Sci
, vol.22
, pp. 174-179
-
-
Datiles, M.B.1
Fukui, H.2
Kuwabora, T.3
-
35
-
-
0027723515
-
Aldose reductase inhibitors and galactose toxicity in neonatal and maternal rat lenses
-
Unakar NJ, Tsui JY, Anthony P, et al: Aldose reductase inhibitors and galactose toxicity in neonatal and maternal rat lenses. J Ocul Pharmacol 9:341-353, 1993
-
(1993)
J Ocul Pharmacol
, vol.9
, pp. 341-353
-
-
Unakar, N.J.1
Tsui, J.Y.2
Anthony, P.3
-
36
-
-
0008544917
-
Response of the mouse lenses to high concentrations of glucose or galactose
-
Kuck JFR: Response of the mouse lenses to high concentrations of glucose or galactose. Ophthalmol Res 1:166-174, 1993
-
(1993)
Ophthalmol Res
, vol.1
, pp. 166-174
-
-
Kuck, J.F.R.1
-
37
-
-
0021242941
-
Stable isotope delution analysis of galactitol in amniotic fluid: An accurate approach to prenatal diagnosis of galactosemia
-
Jakobs C, Warner TG, Sweetman L, et al: Stable isotope delution analysis of galactitol in amniotic fluid: An accurate approach to prenatal diagnosis of galactosemia. Pediatr Res 18:714-718, 1984
-
(1984)
Pediatr Res
, vol.18
, pp. 714-718
-
-
Jakobs, C.1
Warner, T.G.2
Sweetman, L.3
-
39
-
-
0016654166
-
Galactokinase deficiency presenting as pseudotumor cerebri
-
Litman N, Kanter AI, Finberg L: Galactokinase deficiency presenting as pseudotumor cerebri. J Pediatr 86:410-412, 1975
-
(1975)
J Pediatr
, vol.86
, pp. 410-412
-
-
Litman, N.1
Kanter, A.I.2
Finberg, L.3
-
40
-
-
0014342496
-
Cytologic alterations in hereditary metabolic disorders. I. The effects of galactose on galactosemia fibroblasts in vitro
-
Miller LR, Gordon GB, Bensch K: Cytologic alterations in hereditary metabolic disorders. I. The effects of galactose on galactosemia fibroblasts in vitro. Lab Invest 19:428-436, 1968
-
(1968)
Lab Invest
, vol.19
, pp. 428-436
-
-
Miller, L.R.1
Gordon, G.B.2
Bensch, K.3
-
41
-
-
0024388765
-
Diabetic-like retinopathy in rats presented with an aldose reductase inhibitor
-
Robison WG, Nagata M, Lauer N, et al: Diabetic-like retinopathy in rats presented with an aldose reductase inhibitor. Invest Ophthalmol Vis Sci 30:2285-2292, 1989
-
(1989)
Invest Ophthalmol Vis Sci
, vol.30
, pp. 2285-2292
-
-
Robison, W.G.1
Nagata, M.2
Lauer, N.3
-
42
-
-
0027473213
-
Schwann cell injury is attenuated by aldose reductase inhibition in galactose intoxication
-
Mizisin AP, Powell HC: Schwann cell injury is attenuated by aldose reductase inhibition in galactose intoxication. J Neuropathol Exp Neurol 52:78-86, 1993
-
(1993)
J Neuropathol Exp Neurol
, vol.52
, pp. 78-86
-
-
Mizisin, A.P.1
Powell, H.C.2
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