-
1
-
-
0031818023
-
Galactosaemia today: The enigma and the challenge
-
Segal S (1998) Galactosaemia today: The enigma and the challenge. J Inherit Metab Dis 21:455-471
-
(1998)
J Inherit Metab Dis
, vol.21
, pp. 455-471
-
-
Segal, S.1
-
2
-
-
0034435252
-
Galactosaemia and allelic variation at the galactose-1-phosphate uridyltransferase gene: A complex relationship between genotype and phenotype
-
Tyfield LA (2000) Galactosaemia and allelic variation at the galactose-1-phosphate uridyltransferase gene: a complex relationship between genotype and phenotype. Eur J Pediatr 159 [Suppl 3]: S204-S207
-
(2000)
Eur J Pediatr
, vol.159
, Issue.SUPPL. 3
-
-
Tyfield, L.A.1
-
3
-
-
0032973185
-
Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene
-
Tyfield L, Reichardt J, Fridovich-Keil J et al (1999) Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene. Hum Mutat 13:417-430
-
(1999)
Hum Mutat
, vol.13
, pp. 417-430
-
-
Tyfield, L.1
Reichardt, J.2
Fridovich-Keil, J.3
-
4
-
-
0032195337
-
The molecular biology of galactosemia
-
Elsas LJ II, Lai K (1998) The molecular biology of galactosemia. Genet Med 1:40-48
-
(1998)
Genet Med
, vol.1
, pp. 40-48
-
-
Elsas II, L.J.1
Lai, K.2
-
5
-
-
0030367977
-
Vitreous hemorrhage as an ophthalmic complication of galactosemia
-
Levy HL, Brown AE, Williams SE et al (1996) Vitreous hemorrhage as an ophthalmic complication of galactosemia. J Pediatr 129:922-925
-
(1996)
J Pediatr
, vol.129
, pp. 922-925
-
-
Levy, H.L.1
Brown, A.E.2
Williams, S.E.3
-
6
-
-
0029414779
-
In vivo oxidation of [13C]galactose in patients with galactose-1- phosphate uridyltransferase deficiency
-
Berry GT, Nissim I, Mazur AT et al (1995) In vivo oxidation of [13C]galactose in patients with galactose-1-phosphate uridyltransferase deficiency. Biochem Mol Med 56:158-165
-
(1995)
Biochem Mol Med
, vol.56
, pp. 158-165
-
-
Berry, G.T.1
Nissim, I.2
Mazur, A.T.3
-
7
-
-
0033900199
-
Galactose breath testing distinguishes variant and severe galactose 1-phosphate uridyltransferase genotypes
-
Berry GT, Singh RH, Mazur AT et al (2000) Galactose breath testing distinguishes variant and severe galactose 1-phosphate uridyltransferase genotypes. Pediatr Res 48:323-328
-
(2000)
Pediatr Res
, vol.48
, pp. 323-328
-
-
Berry, G.T.1
Singh, R.H.2
Mazur, A.T.3
-
8
-
-
0035716448
-
Evidence for alternate galactose oxidation in a patient with deletion of the galactose-1-phosphate uridyltransferase gene
-
Berry GT, Leslie N, Reynolds R et al (2001) Evidence for alternate galactose oxidation in a patient with deletion of the galactose-1-phosphate uridyltransferase gene. Mol Genet Metab 72:316-321
-
(2001)
Mol Genet Metab
, vol.72
, pp. 316-321
-
-
Berry, G.T.1
Leslie, N.2
Reynolds, R.3
-
9
-
-
2542488313
-
Extended [13C]galactose oxidation studies in patients with galactosemia
-
Berry GT, Reynolds RA, Yager CT et al (2004) Extended [13C]galactose oxidation studies in patients with galactosemia. Mol Genet Metab 82:130-136
-
(2004)
Mol Genet Metab
, vol.82
, pp. 130-136
-
-
Berry, G.T.1
Reynolds, R.A.2
Yager, C.T.3
-
10
-
-
2642581775
-
The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa
-
Henderson H, Leisegang F, Brown R et al (2002) The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa. BMC Pediatr 2:7
-
(2002)
BMC Pediatr
, vol.2
, pp. 7
-
-
Henderson, H.1
Leisegang, F.2
Brown, R.3
-
11
-
-
0033856120
-
The relationship of genotype to cognitive outcome in galactosemia
-
Shield J P H, Wadsworth E J K, MacDonald A et al (2000) The relationship of genotype to cognitive outcome in galactosemia. Arch Dis Child 83:248-250
-
(2000)
Arch Dis Child
, vol.83
, pp. 248-250
-
-
Shield, J.P.H.1
Wadsworth, E.J.K.2
MacDonald, A.3
-
12
-
-
0033636421
-
Risk factors for premature ovarian failure in females with galactosemia
-
Guerrero NV, Singh RH, Manatunga A et al (2000) Risk factors for premature ovarian failure in females with galactosemia. J Pediatr 137:833-841
-
(2000)
J Pediatr
, vol.137
, pp. 833-841
-
-
Guerrero, N.V.1
Singh, R.H.2
Manatunga, A.3
-
14
-
-
0029164316
-
Prenatal diagnosis of galactosemia
-
Jakobs C, Kleijer WJ, Allen J et al (1995) Prenatal diagnosis of galactosemia. Eur J Pediatr 154 [Suppl 2]: S33-S36
-
(1995)
Eur J Pediatr
, vol.154
, Issue.SUPPL. 2
-
-
Jakobs, C.1
Kleijer, W.J.2
Allen, J.3
-
15
-
-
0027516942
-
Ophthalmic findings in classical galactosaemia - Prospective study
-
Beigi B, O'Keefe M, Bowell R et al (1993) Ophthalmic findings in classical galactosaemia - prospective study. Br J Ophthalmol 77:162-164
-
(1993)
Br J Ophthalmol
, vol.77
, pp. 162-164
-
-
Beigi, B.1
O'Keefe, M.2
Bowell, R.3
-
16
-
-
0019135076
-
Dekompensierte Leberzirrhose infolge Galaktosämie bei einem 52jährigen Mann
-
Vogt M, Gitzelmann R, Allemann J (1980) Dekompensierte Leberzirrhose infolge Galaktosämie bei einem 52jährigen Mann. Schweiz Med Wochenschr 110:1781-1783
-
(1980)
Schweiz Med Wochenschr
, vol.110
, pp. 1781-1783
-
-
Vogt, M.1
Gitzelmann, R.2
Allemann, J.3
-
17
-
-
0043237948
-
A woman with untreated galactosemia
-
Lee PJ, Lilburn M, Wendel U et al (2003) A woman with untreated galactosemia. Lancet 362:446
-
(2003)
Lancet
, vol.362
, pp. 446
-
-
Lee, P.J.1
Lilburn, M.2
Wendel, U.3
-
18
-
-
0014541591
-
Formation of galactose-1-phosphate from uridine diphosphate galactose in erythrocytes from patients with galactosemia
-
Gitzelmann R (1969) Formation of galactose-1-phosphate from uridine diphosphate galactose in erythrocytes from patients with galactosemia. Pediatr Res 3:279-286
-
(1969)
Pediatr Res
, vol.3
, pp. 279-286
-
-
Gitzelmann, R.1
-
19
-
-
0016276178
-
Galactose biogenesis and disposal in galactosemics
-
Gitzelmann R, Hansen RG (1974) Galactose biogenesis and disposal in galactosemics. Biochim Biophys Acta 372:374-378
-
(1974)
Biochim Biophys Acta
, vol.372
, pp. 374-378
-
-
Gitzelmann, R.1
Hansen, R.G.2
-
20
-
-
0028879596
-
Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia
-
Berry GT, Nissin I, Lin Z et al (1995) Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia. Lancet 346:1073-1074
-
(1995)
Lancet
, vol.346
, pp. 1073-1074
-
-
Berry, G.T.1
Nissin, I.2
Lin, Z.3
-
21
-
-
0030860818
-
Quantitative assessment of whole body galactose metabolism in galactosemic patients
-
Berry GT, Nissim I, Gibson JB et al (1997) Quantitative assessment of whole body galactose metabolism in galactosemic patients. Eur J Pediatr 156 [Suppl1]: S43-S49
-
(1997)
Eur J Pediatr
, vol.156
, Issue.SUPPL.1
-
-
Berry, G.T.1
Nissim, I.2
Gibson, J.B.3
-
22
-
-
0347320579
-
The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase (GALT) deficiency
-
Berry GT, Moate PJ, Reynolds RA et al (2004) The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase (GALT) deficiency. Mol Genet Metab 81:22-30
-
(2004)
Mol Genet Metab
, vol.81
, pp. 22-30
-
-
Berry, G.T.1
Moate, P.J.2
Reynolds, R.A.3
-
23
-
-
0347320580
-
Age dependence of endogenous galactose formation in Q188R homozygous galactosemic patients
-
Schadewaldt P, Kamalanathan L, Hammen H-W et al (2004) Age dependence of endogenous galactose formation in Q188R homozygous galactosemic patients. Mol Genet Metab 81:31-44
-
(2004)
Mol Genet Metab
, vol.81
, pp. 31-44
-
-
Schadewaldt, P.1
Kamalanathan, L.2
Hammen, H.-W.3
-
24
-
-
0023940228
-
Composition of milk produced by a mother with galactosemia
-
Forbes GB, Barton LD, Nicholas DL et al (1998) Composition of milk produced by a mother with galactosemia. J Pediatr 113:90-91
-
(1998)
J Pediatr
, vol.113
, pp. 90-91
-
-
Forbes, G.B.1
Barton, L.D.2
Nicholas, D.L.3
-
25
-
-
0007729987
-
Biogenesis of galactose, a possible mechanism of self-intoxication in galactosemia
-
Hommes FA, Van den Berg CJ eds, Academic Press, London
-
Gitzelmann R, Hansen RG, Steinmann B (1975) Biogenesis of galactose, a possible mechanism of self-intoxication in galactosemia. In: Hommes FA, Van den Berg CJ (eds) Normal and pathological development of energy metabolism. Academic Press, London, p 2537
-
(1975)
Normal and Pathological Development of Energy Metabolism
, pp. 2537
-
-
Gitzelmann, R.1
Hansen, R.G.2
Steinmann, B.3
-
26
-
-
0019514933
-
Hypergonadotropic hypogonadism in female patients with galactosemia
-
Kaufman FR, Kogut MD, Donnell GN et al (1981) Hypergonadotropic hypogonadism in female patients with galactosemia. N Engl J Med 304:994-998
-
(1981)
N Engl J Med
, vol.304
, pp. 994-998
-
-
Kaufman, F.R.1
Kogut, M.D.2
Donnell, G.N.3
-
27
-
-
0025648036
-
Long-term prognosis in galactosaemia: Result of a survey of a 350 cases
-
Waggoner DD, Buist N R M, Donnell GN (1990) Long-term prognosis in galactosaemia: result of a survey of a 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
-
28
-
-
0029085509
-
Gonadal function in galactosemics and in galactoseintoxicated animals
-
Gibson JB (1995) Gonadal function in galactosemics and in galactoseintoxicated animals. Eur J Pediatr 154 [Suppl 2]: S14-S20
-
(1995)
Eur J Pediatr
, vol.154
, Issue.SUPPL. 2
-
-
Gibson, J.B.1
-
29
-
-
0020405880
-
Galactosemia - Thirty years on. The experience of a generation
-
Komrower GM (1982) Galactosemia - thirty years on. The experience of a generation. J Inherit Metab Dis 5 [Suppl 2]: 96-104
-
(1982)
J Inherit Metab Dis
, vol.5
, Issue.SUPPL. 2
, pp. 96-104
-
-
Komrower, G.M.1
-
30
-
-
0027270602
-
Long-term outcome in 134 patients with galactosaemia
-
Schweitzer S, Shin Y, Jakobs C et al (1993) Long-term outcome in 134 patients with galactosaemia. Eur J Pediatr 152:36-43
-
(1993)
Eur J Pediatr
, vol.152
, pp. 36-43
-
-
Schweitzer, S.1
Shin, Y.2
Jakobs, C.3
-
31
-
-
0030878583
-
A longitudinal study of cognitive functioning in patients with classical galactosaemia, including a cohort treated with oral uridine
-
Manis FR, Cohn LB, McBride Chang C et al (1997) A longitudinal study of cognitive functioning in patients with classical galactosaemia, including a cohort treated with oral uridine. J Inherit Metab Dis 20:549-555
-
(1997)
J Inherit Metab Dis
, vol.20
, pp. 549-555
-
-
Manis, F.R.1
Cohn, L.B.2
Chang, C.M.3
-
32
-
-
0027476691
-
The effect of dietary fruits and vegetables on urinary galactitol excretion in galactose-1-phosphate uridyltransferase deficiency
-
Berry GT, Palmieri M, Gross KC et al (1993) 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)
J Inherit Metab Dis
, vol.16
, pp. 91-100
-
-
Berry, G.T.1
Palmieri, M.2
Gross, K.C.3
-
33
-
-
2442418134
-
Safety of soy-based infant formulas containing isoflavones: The clinical evidence
-
Merritt RJ, Jenks BH (2004) Safety of soy-based infant formulas containing isoflavones: the clinical evidence. J Nutr 134:1220S-1224S
-
(2004)
J Nutr
, vol.134
-
-
Merritt, R.J.1
Jenks, B.H.2
-
34
-
-
0025819374
-
Fruits and vegetables are a source of galactose: Implications in planning the diets of patients with galactosaemia
-
Gross KC, Acosta PB (1991) Fruits and vegetables are a source of galactose: implications in planning the diets of patients with galactosaemia. J Inherit Metab Dis 14:253-258
-
(1991)
J Inherit Metab Dis
, vol.14
, pp. 253-258
-
-
Gross, K.C.1
Acosta, P.B.2
-
35
-
-
0029084238
-
Hidden sources of galactose in the environment
-
Acosta PB, Gross KC (1995) Hidden sources of galactose in the environment. Eur J Pediatr 154 [Suppl 2]: S8792
-
(1995)
Eur J Pediatr
, vol.154
, Issue.SUPPL. 2
-
-
Acosta, P.B.1
Gross, K.C.2
-
36
-
-
0029148323
-
Leguminosae in the diet: The raffinose-stachyose-question
-
Wiesmann U, Ros-Beutler B, Schlchter R (1995) Leguminosae in the diet: The raffinose-stachyose-question. Eur J Pediatr 154 [Suppl 2]: S9396
-
(1995)
Eur J Pediatr
, vol.154
, Issue.SUPPL. 2
-
-
Wiesmann, U.1
Ros-Beutler, B.2
Schlchter, R.3
-
37
-
-
76549227473
-
The handling of soya alpha-galactosides by a normal and a galactosemic child
-
Gitzelmann R, Auricchio S (1965) The handling of soya alpha-galactosides by a normal and a galactosemic child. Pediatrics 36:231-235
-
(1965)
Pediatrics
, vol.36
, pp. 231-235
-
-
Gitzelmann, R.1
Auricchio, S.2
-
38
-
-
84895382173
-
Enzymatische Bestimmungsmethoden zur Erfassung der Grunungsvorgange in der milchwirtschaftlichen Technologie
-
Steffen C (1975) Enzymatische Bestimmungsmethoden zur Erfassung der Grunungsvorgange in der milchwirtschaftlichen Technologie. Lebensm Wiss Technol 8:16
-
(1975)
Lebensm Wiss Technol
, vol.8
, pp. 16
-
-
Steffen, C.1
-
39
-
-
0027197831
-
Effect of hypogonadism and deficient calcium intake on bone density in patients with galactosemia
-
Kaufman FR, Loro ML, Azen C et al (1993) Effect of hypogonadism and deficient calcium intake on bone density in patients with galactosemia. J Pediatr 123:365-370
-
(1993)
J Pediatr
, vol.123
, pp. 365-370
-
-
Kaufman, F.R.1
Loro, M.L.2
Azen, C.3
-
40
-
-
84886012463
-
Lactobionic acid as a substrate of α-galactosidases
-
Harju M (1990) Lactobionic acid as a substrate of α-galactosidases. Milchwissenschaft 45:411-415
-
(1990)
Milchwissenschaft
, vol.45
, pp. 411-415
-
-
Harju, M.1
-
41
-
-
0343458758
-
Pregnancy in classical galactosemia
-
Burman D, Holton JB, Pennock CA eds, MTP, Lancaster
-
Sardharwalla IB, Komrower GM, Schwarz V (1980) Pregnancy in classical galactosemia. In: Burman D, Holton JB, Pennock CA (eds) Inherited disorders of carbohydrate metabolism. MTP, Lancaster, pp 125-132
-
(1980)
Inherited Disorders of Carbohydrate Metabolism
, pp. 125-132
-
-
Sardharwalla, I.B.1
Komrower, G.M.2
Schwarz, V.3
-
42
-
-
0021127337
-
Galactosemia: How does longterm treatment change the outcome?
-
Gitzelmann R, Steinmann B (1984) Galactosemia: How does longterm treatment change the outcome? Enzyme 32:37-46
-
(1984)
Enzyme
, vol.32
, pp. 37-46
-
-
Gitzelmann, R.1
Steinmann, B.2
-
43
-
-
0029864843
-
Galactosaemia: Pathogenesis and treatment
-
Holton JB (1996) Galactosaemia: pathogenesis and treatment. J Inherit Metab Dis 19:3-7
-
(1996)
J Inherit Metab Dis
, vol.19
, pp. 3-7
-
-
Holton, J.B.1
-
44
-
-
3242877987
-
Living with classical galactosemia: Health-related quality of life consequences
-
Bosch AM, Grootenhuis MA, Bakker HD et al (2004) Living with classical galactosemia: health-related quality of life consequences. Pediatrics 113 (5) 423-428
-
(2004)
Pediatrics
, vol.113
, Issue.5
, pp. 423-428
-
-
Bosch, A.M.1
Grootenhuis, M.A.2
Bakker, H.D.3
-
45
-
-
0022390120
-
Accumulation of galactose-1-phosphate in the galactosaemic fetus despite maternal milk avoidance
-
Irons M, Levy HL, Pueschel S et al (1985) Accumulation of galactose-1-phosphate in the galactosaemic fetus despite maternal milk avoidance. J Pediatr 107:261-263
-
(1985)
J Pediatr
, vol.107
, pp. 261-263
-
-
Irons, M.1
Levy, H.L.2
Pueschel, S.3
-
46
-
-
0029093465
-
Effects of galactosemia in utero
-
Holton JB (1995) Effects of galactosemia in utero. Eur J Pediatr 154:S77-S81
-
(1995)
Eur J Pediatr
, vol.154
-
-
Holton, J.B.1
-
47
-
-
0029119644
-
Galactose-1-phosphate in the pathophysiology of galactosemia
-
Gitzelmann R (1995) Galactose-1-phosphate in the pathophysiology of galactosemia. Eur J Pediatr 154 [Suppl 2]: S45-S49
-
(1995)
Eur J Pediatr
, vol.154
, Issue.SUPPL. 2
-
-
Gitzelmann, R.1
-
48
-
-
0032935597
-
Generalised uridine diphosphate galactose-4-epimerase deficiency
-
Walter JH, Roberts RE, Besley GT et al (1999) Generalised uridine diphosphate galactose-4-epimerase deficiency. Arch Dis Child 80:374-376
-
(1999)
Arch Dis Child
, vol.80
, pp. 374-376
-
-
Walter, J.H.1
Roberts, R.E.2
Besley, G.T.3
-
49
-
-
0017045583
-
Uridine diphosphate galactose 4-epimerase deficiency. IV. Report of eight cases in three families
-
Gitzelmann R, Steinmann B, Mitchell B et al (1976) Uridine diphosphate galactose 4-epimerase deficiency. IV. Report of eight cases in three families. Helv Paediatr Acta 31:441-445
-
(1976)
Helv Paediatr Acta
, vol.31
, pp. 441-445
-
-
Gitzelmann, R.1
Steinmann, B.2
Mitchell, B.3
-
50
-
-
0015776154
-
Uridine diphosphate galactose 4-epimerase deficiency II. Clinical follow-up, biochemical studies and family investigation
-
Gitzelmann R, Steinmann B (1973) Uridine diphosphate galactose 4-epimerase deficiency II. Clinical follow-up, biochemical studies and family investigation. Helv Paediatr Acta 28:497-510
-
(1973)
Helv Paediatr Acta
, vol.28
, pp. 497-510
-
-
Gitzelmann, R.1
Steinmann, B.2
-
51
-
-
0028885568
-
Molecular cloning, characterization, and mapping of a full-length cDNA encoding human UDP-galactose 4.-epimerase
-
Daude N, Gallaher TK, Zeschnigk M et al (1995) Molecular cloning, characterization, and mapping of a full-length cDNA encoding human UDP-galactose 4.-epimerase. Biochem Mol Med 56:1-7
-
(1995)
Biochem Mol Med
, vol.56
, pp. 1-7
-
-
Daude, N.1
Gallaher, T.K.2
Zeschnigk, M.3
-
52
-
-
0031669072
-
Human UDPgalactose 4.epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency
-
Maceratesi P, Daude N, Dallapiccola B et al (1998) Human UDPgalactose 4.epimerase (GALE) gene and identification of five missense mutations in patients with epimerase-deficiency. Mol Genet Metab 63:26-30
-
(1998)
Mol Genet Metab
, vol.63
, pp. 26-30
-
-
Maceratesi, P.1
Daude, N.2
Dallapiccola, B.3
-
53
-
-
0031821733
-
Molecular characterization of a unique patient with epimerase-deficiency galactosaemia
-
Alano A, Almashanu S, Chinsky JM et al (1998) Molecular characterization of a unique patient with epimerase-deficiency galactosaemia. J Inherit Metab Dis 21:341-350
-
(1998)
J Inherit Metab Dis
, vol.21
, pp. 341-350
-
-
Alano, A.1
Almashanu, S.2
Chinsky, J.M.3
-
54
-
-
0033073396
-
Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia
-
Wohlers TM, Christacos NC, Harreman MT et al (1999) Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia. Am J Hum Genet 64:462-470
-
(1999)
Am J Hum Genet
, vol.64
, pp. 462-470
-
-
Wohlers, T.M.1
Christacos, N.C.2
Harreman, M.T.3
-
55
-
-
0033745216
-
Studies of the V94M-substituted human UDPgalactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosaemia
-
Wohlers TM, Fridovich-Keil JL (2000) Studies of the V94M-substituted human UDPgalactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosaemia. J Inherit Metab Dis 23:713-729
-
(2000)
J Inherit Metab Dis
, vol.23
, pp. 713-729
-
-
Wohlers, T.M.1
Fridovich-Keil, J.L.2
-
56
-
-
3543045527
-
Determinants of function and substrate specificity in human UDP-galactose epimerase
-
Schulz JM, Watson AL, Sanders R et al (2004) Determinants of function and substrate specificity in human UDP-galactose epimerase. J Biol Chem 279:32796-32803
-
(2004)
J Biol Chem
, vol.279
, pp. 32796-32803
-
-
Schulz, J.M.1
Watson, A.L.2
Sanders, R.3
-
57
-
-
84895292029
-
Hereditary galactokinase deficiency a newly recognized cause of juvenile cataracts
-
Gitzelmann R (1967) Hereditary galactokinase deficiency a newly recognized cause of juvenile cataracts. Pediatr Res 1:1423
-
(1967)
Pediatr Res
, vol.1
, pp. 1423
-
-
Gitzelmann, R.1
-
58
-
-
0036972553
-
Clinical features of galactokinase deficiency: A review of the literature
-
Bosch AM, Bakker HD, VanGennip AH et al (2002) Clinical features of galactokinase deficiency: A review of the literature. J Inherit Metab Dis 25:629-634
-
(2002)
J Inherit Metab Dis
, vol.25
, pp. 629-634
-
-
Bosch, A.M.1
Bakker, H.D.2
VanGennip, A.H.3
-
59
-
-
0033860406
-
A mouse model of galactose-induced cataracts
-
Ai Y, Zheng Z, O'Brien-Jenkins A et al (2000) A mouse model of galactose-induced cataracts. Hum Mol Genet 9:1821-1827
-
(2000)
Hum Mol Genet
, vol.9
, pp. 1821-1827
-
-
Ai, Y.1
Zheng, Z.2
O'Brien-Jenkins, A.3
-
60
-
-
0036241903
-
An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening
-
Reich S, Hennermann J, Vetter B et al (2002) An unexpectedly high frequency of hypergalactosemia in an immigrant Bosnian population revealed by newborn screening. Pediatr Res 51:598-601
-
(2002)
Pediatr Res
, vol.51
, pp. 598-601
-
-
Reich, S.1
Hennermann, J.2
Vetter, B.3
-
61
-
-
0029011131
-
Cloning the galactokinase cDNA and identification of mutations in two families with cataracts
-
Stambolian D, Ai Y, Sidjanin D et al (1995) Cloning the galactokinase cDNA and identification of mutations in two families with cataracts. Nat Genet 10:307-312
-
(1995)
Nat Genet
, vol.10
, pp. 307-312
-
-
Stambolian, D.1
Ai, Y.2
Sidjanin, D.3
-
62
-
-
0026442894
-
Cloning of a human galactokinase gene (GK2) on chromosome 15 by complementation in yeast
-
Lee RT, Peterson GL, Calman AF et al (1992) Cloning of a human galactokinase gene (GK2) on chromosome 15 by complementation in yeast. Proc Natl Acad Sci USA 89:10887-10891
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 10887-10891
-
-
Lee, R.T.1
Peterson, G.L.2
Calman, A.F.3
-
63
-
-
0033358331
-
A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies)
-
Kalaydjieva L, Perez-Lezaun A, Angelicheva D et al (1999) A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). Am J Hum Genet 65:1299-1307
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1299-1307
-
-
Kalaydjieva, L.1
Perez-Lezaun, A.2
Angelicheva, D.3
-
64
-
-
0032727538
-
Molecular characterization of galactokinase deficiency in Japanese patients
-
Asada M, Okano Y, Imamura T et al (1999) Molecular characterization of galactokinase deficiency in Japanese patients. J Hum Genet 44:377-382
-
(1999)
J Hum Genet
, vol.44
, pp. 377-382
-
-
Asada, M.1
Okano, Y.2
Imamura, T.3
-
65
-
-
0034087447
-
Novel mutations in 13 probands with galactokinase deficiency
-
Kolosha V, Anoia E, deCespedes C et al (2000) Novel mutations in 13 probands with galactokinase deficiency. Hum Mutat 15:447-453
-
(2000)
Hum Mutat
, vol.15
, pp. 447-453
-
-
Kolosha, V.1
Anoia, E.2
DeCespedes, C.3
-
66
-
-
0035227671
-
Novel mutations in the GALK1 gene in patients with galactokinase deficiency
-
Hunter M, Angelicheva D, Levy HL et al (2001) Novel mutations in the GALK1 gene in patients with galactokinase deficiency. Hum Mutat 17:77-78
-
(2001)
Hum Mutat
, vol.17
, pp. 77-78
-
-
Hunter, M.1
Angelicheva, D.2
Levy, H.L.3
-
67
-
-
0035071070
-
A genetic factor for age-related cataract: Identification and characterization of a novel galactokinase variant, "Osaka", in Asians
-
Okano Y, Asada M, Fujimoto A et al (2001) A genetic factor for age-related cataract: Identification and characterization of a novel galactokinase variant, "Osaka", in Asians. Am J Hum Genet 68:1036-1042
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1036-1042
-
-
Okano, Y.1
Asada, M.2
Fujimoto, A.3
-
68
-
-
0036237961
-
The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe
-
Hunter M, Heyer E, Austerlitz F et al (2002) The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe. Pediatr Res 51:602-606
-
(2002)
Pediatr Res
, vol.51
, pp. 602-606
-
-
Hunter, M.1
Heyer, E.2
Austerlitz, F.3
-
69
-
-
0038409000
-
Functional analysis of disease-causing mutations in human galactokinase
-
Timson DJ, Reece RJ (2003) Functional analysis of disease-causing mutations in human galactokinase. Eur J Biochem 270:1767-1774
-
(2003)
Eur J Biochem
, vol.270
, pp. 1767-1774
-
-
Timson, D.J.1
Reece, R.J.2
-
70
-
-
2342558726
-
Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency
-
Sangiuolo F, Magnani M, Stambolian D et al (2004) Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency. Hum Mutat 23:396
-
(2004)
Hum Mutat
, vol.23
, pp. 396
-
-
Sangiuolo, F.1
Magnani, M.2
Stambolian, D.3
-
71
-
-
0347519164
-
Mutations in galactose-1-phosphate uridyltransferase gene in patients with idiopathic presenile cataract
-
Karas N, Gobec L, Pfeifer V et al (2003) Mutations in galactose-1-phosphate uridyltransferase gene in patients with idiopathic presenile cataract. J Inherit Metab Dis 26:699-704
-
(2003)
J Inherit Metab Dis
, vol.26
, pp. 699-704
-
-
Karas, N.1
Gobec, L.2
Pfeifer, V.3
-
73
-
-
0142119357
-
Galactokinase gene metations and age-related cataract. Lack of association in an Italian population
-
Maraini G, Fielding Hejtmancik J, Shiels A et al (2003) Galactokinase gene metations and age-related cataract. Lack of association in an Italian population. Mol Vis 9:397-400
-
(2003)
Mol Vis
, vol.9
, pp. 397-400
-
-
Maraini, G.1
Hejtmancik, J.F.2
Shiels, A.3
-
74
-
-
0026639383
-
Hypergalactosaemia and portosystemic encephalopathy due to persistence of ductus venosus Arantii
-
Gitzelmann R, Arbenz UV, Willi UV (1992) Hypergalactosaemia and portosystemic encephalopathy due to persistence of ductus venosus Arantii. Eur J Pediatr 151:564-568
-
(1992)
Eur J Pediatr
, vol.151
, pp. 564-568
-
-
Gitzelmann, R.1
Arbenz, U.V.2
Willi, U.V.3
-
75
-
-
0027454301
-
Hypergalactosaemia in a patient with portal-hepatic venous and hepatic arterio-venous shunts detected by neonatal screening
-
Matsumoto T, Okano R, Sakura N et al (1993) Hypergalactosaemia in a patient with portal-hepatic venous and hepatic arterio-venous shunts detected by neonatal screening. Eur J Pediatr 152:990-992
-
(1993)
Eur J Pediatr
, vol.152
, pp. 990-992
-
-
Matsumoto, T.1
Okano, R.2
Sakura, N.3
-
76
-
-
0030884891
-
Hypergalactosaemia in a newborn: Self-limiting intrahepatic portosystemic venous shunt
-
Gitzelmann R, Forster I, Willi UV (1997) Hypergalactosaemia in a newborn: Self-limiting intrahepatic portosystemic venous shunt. Eur J Pediatr 156:719-722
-
(1997)
Eur J Pediatr
, vol.156
, pp. 719-722
-
-
Gitzelmann, R.1
Forster, I.2
Willi, U.V.3
|