-
1
-
-
0025008050
-
Galactose disorders: An Overview
-
Iholton JB: Galactose disorders: An Overview. J Inher Metab Dis13:476-486, 1990.
-
(1990)
J Inher Metab Dis
, vol.13
, pp. 476-486
-
-
Iholton, J.B.1
-
2
-
-
0000029655
-
Disorders of galactose metabolism
-
Scriver CR, Beaudet AL, Sly WS, Valle D, New York: McGraw-Hill
-
SegalS, BerryGT: Disorders of galactose metabolism. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): ''The Metabolic and Molecular Bases of Inherited Diseases," vol 1. New York: McGraw-Hill, 1995.
-
(1995)
''The Metabolic and Molecular Bases of Inherited Diseases,"
, vol.1
-
-
Segal, S.1
Berry, G.T.2
-
3
-
-
0002893603
-
Galactose metabolism, hereditary defects and their clinical significance
-
Burman D, Holton JB, Pennock CA (eds):, MTP Lancaster MTP
-
GitzelmannR, HansenRG: Galactose metabolism, hereditary defects and their clinical significance. In Burman D, Holton JB, Pennock CA (eds): "Inherited Disorders of Carbohydrate Metabolism." MTP Lancaster MTP, 1980.
-
(1980)
Inherited Disorders of Carbohydrate Metabolism.
-
-
Gitzelmann, R.1
Hansen, R.G.2
-
4
-
-
0014541591
-
Formation of galactose-I-phosphate from uridine diphosaphate galactose in erythocytes from patients with galactosemia
-
GitzelmannR: Formation of galactose-I-phosphate from uridine diphosaphate galactose in erythocytes from patients with galactosemia. Pediatr Res279-286, 1969.
-
(1969)
Pediatr Res
, pp. 279-286
-
-
Gitzelmann, R.1
-
5
-
-
0026577583
-
Abnormal galactosylation of complex carbohydrates in cultured fibroblasts from patients with galactose-I-phosphate uridyl transferase deficiency
-
OrnsteinKS, McGuireEJ, BerryGT, RothS, SegalS: Abnormal galactosylation of complex carbohydrates in cultured fibroblasts from patients with galactose-I-phosphate uridyl transferase deficiency. Pediatr Res31:508-511, 1992.
-
(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
-
6
-
-
0024854932
-
Uridine nucleotide sugars in erythrocytes of patients with galactosemia decifiency
-
XuYK, NgWG, KaufmanFR, DonnellGN: Uridine nucleotide sugars in erythrocytes of patients with galactosemia decifiency. J Inher Metab Dis12:445-450, 1989.
-
(1989)
J Inher Metab Dis
, vol.12
, pp. 445-450
-
-
Xu, Y.K.1
Ng, W.G.2
Kaufman, F.R.3
Donnell, G.N.4
-
7
-
-
0026677140
-
Langzeitergebnisse von Kinder mit classischer Galaktosarnie
-
ScheibenreiterS, KnollE, WidhalmK: Langzeitergebnisse von Kinder mit classischer Galaktosarnie, Wien Klin Wochenschr104(16):514-517, 1992.
-
(1992)
Wien Klin Wochenschr
, vol.104
, Issue.16
, pp. 514-517
-
-
Scheibenreiter, S.1
Knoll, E.2
Widhalm, K.3
-
8
-
-
0025648036
-
Long-term prognosis in galactosaemia: Results of a survey of 350 cases
-
WaggonerDD, BuistNRM, DonnellGN: Long-term prognosis in galactosaemia: results of a survey of 350 cases. J Inher Metab Dis13:802-818, 1990.
-
(1990)
J Inher Metab Dis
, vol.13
, pp. 802-818
-
-
Waggoner, D.D.1
Buist, N.2
Donnell, G.N.3
-
9
-
-
0027196786
-
Long-term complications in treated galactosaemia-175-US cases
-
WaggonerDD, BuistNRM: Long-term complications in treated galactosaemia-175-US cases. International Pediatrics8(1):97-100, 1993.
-
(1993)
International Pediatrics
, vol.8
, Issue.1
, pp. 97-100
-
-
Waggoner, D.D.1
Buist, N.2
-
11
-
-
85011162803
-
Galaktosuria nach Milchzuckergabe bei angegorenem, familiarem, chronischem Leberleidem
-
Gtippert-Gtittingen F: Galaktosuria nach Milchzuckergabe bei angegorenem, familiarem, chronischem Leberleidem. Berliner Klinische Wochenschrift20:473-477, 1917.
-
(1917)
Berliner Klinische Wochenschrift
, vol.20
, pp. 473-477
-
-
Gtippert-Gtittingen, F.1
-
12
-
-
0000103930
-
Chronic galactosaemia, report of case with studies on carbohydrates
-
MasonHH, TurnerME: Chronic galactosaemia, report of case with studies on carbohydrates. Am J Dis Child50:359-374, 1935.
-
(1935)
Am J Dis Child
, vol.50
, pp. 359-374
-
-
Mason, H.H.1
Turner, M.E.2
-
13
-
-
0242412060
-
Galactosaemia in a infant with cataracts, clinical observations and carbohydrate studies
-
BruckE, RapoportS: Galactosaemia in a infant with cataracts, clinical observations and carbohydrate studies. Am J Dis Child70:267-276, 1945.
-
(1945)
Am J Dis Child
, vol.70
, pp. 267-276
-
-
Bruck, E.1
Rapoport, S.2
-
14
-
-
8244245839
-
Galactosaemia with hepatic damage, report of a case in a infant with recovery
-
MellinkoffS, RothB, MacLagganJ: Galactosaemia with hepatic damage, report of a case in a infant with recovery. J Pediatr27:338-342, 1945.
-
(1945)
J Pediatr
, vol.27
, pp. 338-342
-
-
Mellinkoff, S.1
Roth, B.2
Maclaggan, J.3
-
15
-
-
0027246111
-
The challenge of galactosaemia
-
SegalS: The challenge of galactosaemia. International Pediatrics8(1):125-132, 1993.
-
(1993)
International Pediatrics
, vol.8
, Issue.1
, pp. 125-132
-
-
Segal, S.1
-
16
-
-
0028879596
-
Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia
-
BerryGT, NissimI, LinZ, ZhipingL, MazurAT, GibsonJB, SegalS: Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia. The Lancet346: 1073-1074, 1995.
-
(1995)
The Lancet
, vol.346
, pp. 1073-1074
-
-
Berry, G.T.1
Nissim, I.2
Lin, Z.3
Zhiping, L.4
Mazur, A.T.5
Gibson, J.B.6
Segal, S.7
-
17
-
-
0007729987
-
Biogenesis of galactose, a possible mechanism of self-intoxication
-
Hommes F, Van den Berg G, London: Academic Press
-
GitzelmannR, HansenRG, SteinmannB: Biogenesis of galactose, a possible mechanism of self-intoxication. In Hommes F, Van den Berg G (eds): Normal and Pathological Development of Energy Metabolism. London: Academic Press, 25-37, 1975.
-
(1975)
Normal and Pathological Development of Energy Metabolism
, pp. 25-37
-
-
Gitzelmann, R.1
Hansen, R.G.2
Steinmann, B.3
-
18
-
-
0025819374
-
Fruits and vegetables are source of galactose: Implications in planning the diets of patients with galactosaemia
-
GrossKC, AcostaPB: Fruits and vegetables are source of galactose: implications in planning the diets of patients with galactosaemia. J Inher Metab Dis14:253-258, 1991.
-
(1991)
J Inher Metab Dis
, vol.14
, pp. 253-258
-
-
Gross, K.C.1
Acosta, P.B.2
-
19
-
-
0024463642
-
Deficit of uridine diphosphate galactose in galactosaemia
-
NgWG, XuYK, KaufmanFR, DonnellGN: Deficit of uridine diphosphate galactose in galactosaemia. J Inher Metab Dis 12:257-266,1989.
-
(1989)
J Inher Metab Dis
, vol.12
, pp. 257-266
-
-
Ng, W.G.1
Xu, Y.K.2
Kaufman, F.R.3
Donnell, G.N.4
-
20
-
-
8244256019
-
Galactosaemia, Report of four cases
-
DonnellG, LannSH: Galactosaemia, Report of four cases. Pediatrics7:503-515, 1951.
-
(1951)
Pediatrics
, vol.7
, pp. 503-515
-
-
Donnell, G.1
Lann, S.H.2
-
21
-
-
8244235218
-
A study of the genetics of galactosaemia
-
HolzelA, KomrowerGM: A study of the genetics of galactosaemia. Arch Dis Child155-159, 1955.
-
(1955)
Arch Dis Child
, pp. 155-159
-
-
Holzel, A.1
Komrower, G.M.2
-
22
-
-
0027289060
-
The molecular genetic basis of galactosaemia
-
ReichardtJKV: The molecular genetic basis of galactosaemia. International Pediatrics8(1):110-113, 1993.
-
(1993)
International Pediatrics
, vol.8
, Issue.1
, pp. 110-113
-
-
Reichardt, J.1
-
23
-
-
0008290389
-
Disorders of carbohydrate metabolism
-
Holton ffi, 2nd ed. Edinburgh: Churchill Livingstone
-
DungerDD, HoltonJB: Disorders of carbohydrate metabolism. In Holton ffi (ed): ''The Inherited Metabolic Diseases," 2nd ed. Edinburgh: Churchill Livingstone, 1994.
-
(1994)
''The Inherited Metabolic Diseases,"
-
-
Dunger, D.D.1
Holton, J.B.2
-
24
-
-
0029060921
-
Galactosaemia: Relationship of IQ to biochemical control and genotype
-
ClearyMA, HeptindtsllLE, WraithJE, WalterJH: Galactosaemia: relationship of IQ to biochemical control and genotype. J Inher Metab Dis18:151-152, 1995.
-
(1995)
J Inher Metab Dis
, vol.18
, pp. 151-152
-
-
Cleary, M.A.1
Heptindtsll, L.E.2
Wraith, J.E.3
Walter, J.H.4
-
25
-
-
0027263889
-
Galactosaemia, a molecular approach to the enigma
-
ElsasU, Fridovich-KeilJL, LeslieNO: Galactosaemia, a molecular approach to the enigma. International Pediatrics8(1):101-109, 1993.
-
(1993)
International Pediatrics
, vol.8
, Issue.1
, pp. 101-109
-
-
Elsas, U.1
Fridovich-Keil, J.L.2
Leslie, N.O.3
-
26
-
-
8244227404
-
Galactosaemia, a congenital defect in nucleotide transferase
-
KalckarHM, AndersonEP, IsselbacherKJ: Galactosaemia, a congenital defect in nucleotide transferase. Biochimica et Biophysica Acta20:262-268, 1956.
-
(1956)
Biochimica Et Biophysica Acta
, vol.20
, pp. 262-268
-
-
Kalckar, H.M.1
Erson, E.P.2
Isselbacher, K.J.3
-
27
-
-
8244243318
-
A procedure for detecting carriers of galactosemia
-
BreithauerRK, HansenRG, DonnellG, BergrenWR: A procedure for detecting carriers of galactosemia. Proc Nat Acad Sci 45:328-331, 1959.
-
(1959)
Proc Nat Acad Sci
, vol.45
, pp. 328-331
-
-
Breithauer, R.K.1
Hansen, R.G.2
Donnell, G.3
Bergren, W.R.4
-
28
-
-
0013693366
-
A new method for detection of galactosaemia and its carrier state
-
BeutlerE, BaludaM, DonnellGN: A new method for detection of galactosaemia and its carrier state. J Lab Clin Med64:694-705, 1964.
-
(1964)
J Lab Clin Med
, vol.64
, pp. 694-705
-
-
Beutler, E.1
Baluda, M.2
Donnell, G.N.3
-
29
-
-
0013930049
-
A simple spot screening test for galactosaemia
-
BeutlerE, BaludaMC: A simple spot screening test for galactosaemia. J Lab Clin Med68:137-141, 1966.
-
(1966)
J Lab Clin Med
, vol.68
, pp. 137-141
-
-
Beutler, E.1
Baluda, M.C.2
-
30
-
-
85011224824
-
Field test of galactosaemia screening methods in newborn infants
-
BeutlerE, IrwinHR, BlumenfeldCM, GoldenburgEW, DayRW: Field test of galactosaemia screening methods in newborn infants. JAMA19(7):161-163, 1976.
-
(1976)
JAMA
, vol.19
, Issue.7
, pp. 161-163
-
-
Beutler, E.1
Irwin, H.R.2
Blumenfeld, C.M.3
Goldenburg, E.W.4
Day, R.W.5
-
31
-
-
8244245361
-
Disorders diagnosed by screening (2. Carbohydrate disorder)
-
LevyHL: Disorders diagnosed by screening (2. carbohydrate disorder). Adv Hum Gen4:57-60, 1973.
-
(1973)
Adv Hum Gen
, vol.4
, pp. 57-60
-
-
Levy, H.L.1
-
32
-
-
0019965593
-
A new method for screening for inherited disorders of the galactose metabolism
-
PaigenK, PacholecF, LevyHL: A new method for screening for inherited disorders of the galactose metabolism. J Lab Clin Med99:895-907, 1982.
-
(1982)
J Lab Clin Med
, vol.99
, pp. 895-907
-
-
Paigen, K.1
Pacholec, F.2
Levy, H.L.3
-
33
-
-
8244235217
-
Estimation of frequency of occurrence of galactosaemia in the population
-
HansenRG, BretthauerRK, MayesJ, NordinJH: Estimation of frequency of occurrence of galactosaemia in the population. Proc Soc Exp Bioi Med115:560-563, 1964.
-
(1964)
Proc Soc Exp Bioi Med
, vol.115
, pp. 560-563
-
-
Hansen, R.G.1
Bretthauer, R.K.2
Mayes, J.3
Nordin, J.H.4
-
34
-
-
0015214847
-
Galactosaemia screening of newborns in Massachussetts
-
Shih VE, Levy HL, Karolkewicz V, Houghton S, Efron ML, Isselbacher KJ, Beutler E, MacCready RA: Galactosaemia screening of newborns in Massachussetts. N Engl J Med 284(14):753-757, 1971.
-
(1971)
N Engl J Med
, vol.284
, Issue.14
, pp. 753-757
-
-
Shih, V.E.1
Levy, H.L.2
Karolkewicz, V.3
Houghton, S.4
Efron, M.L.5
Isselbacher, K.J.6
Beutler, E.7
Maccready, R.A.8
-
35
-
-
0027476691
-
The effect of dietary fruits and vegetables on urinary galactitol excretion in galactose-I-phosphate uridyltransferase deficiency
-
BerryGT, PalmierM, GrossKC, AcostaPH, HenstenburgJA, MazurA, ReynoldsR, SegalS: The effect of dietary fruits and vegetables on urinary galactitol excretion in galactose-I-phosphate uridyltransferase deficiency. J Inher Metab Dis16:91-100, 1993.
-
(1993)
J Inher Metab Dis
, vol.16
, pp. 91-100
-
-
Berry, G.T.1
Palmier, M.2
Gross, K.C.3
Acosta, P.H.4
Henstenburg, J.A.5
Mazur, A.6
Reynolds, R.7
Segal, S.8
-
36
-
-
0026347002
-
Verbal dyspraxia in treated galactosaemia
-
Nelson CD, Waggoner MS, Donnell GN, Tuerck JM, Buist NRM: Verbal dyspraxia in treated galactosaemia. Pediatrics 88(2):346-350, 1991.
-
(1991)
Pediatrics
, vol.88
, Issue.2
, pp. 346-350
-
-
Nelson, C.D.1
Waggoner, M.S.2
Donnell, G.N.3
Tuerck, J.M.4
Buist, N.5
-
37
-
-
0027500692
-
Impaired hexose uptake by diploid skin fibroblasts from galactosaemic patients. Connection with cell growth and amino acid metabolism, and possible bearing on late clinical symptoms
-
WolfromC, RaynaudN, KadhomN, PoggiJ, SoniT, GautierM: Impaired hexose uptake by diploid skin fibroblasts from galactosaemic patients. Connection with cell growth and amino acid metabolism, and possible bearing on late clinical symptoms. J Inher Metab Dis16:78-90, 1993.
-
(1993)
J Inher Metab Dis
, vol.16
, pp. 78-90
-
-
Wolfrom, C.1
Raynaud, N.2
Kadhom, N.3
Poggi, J.4
Soni, T.5
Gautier, M.6
-
38
-
-
0018580832
-
On the involvement of serotonin in galactose brain toxicity
-
YandrasitzJ, HwangSM, CohnR, SegalS: On the involvement of serotonin in galactose brain toxicity. J Neurochem33:1321-1323, 1979.
-
(1979)
J Neurochem
, vol.33
, pp. 1321-1323
-
-
Yandrasitz, J.1
Hwang, S.M.2
Cohn, R.3
Segal, S.4
-
39
-
-
0023894728
-
Galactose and cataract
-
StamboliamD: Galactose and cataract. Surv Ophthalmol 32:333-349, 1988.
-
(1988)
Surv Ophthalmol
, vol.32
, pp. 333-349
-
-
Stamboliam, D.1
-
40
-
-
0025778174
-
Lactose and cataracts in humans: A review
-
CouetC, JanP, DebryG: Lactose and cataracts in humans: a review. J Am ColJ Nutr10(1):79-86, 1991.
-
(1991)
J am Colj Nutr
, vol.10
, Issue.1
, pp. 79-86
-
-
Couet, C.1
Jan, P.2
Debry, G.3
-
41
-
-
0024499207
-
Galactose metabolism in human ovarian tissue
-
XuYK, NgWG, KaufmanFR, LoboRA, DonnellGN: Galactose metabolism in human ovarian tissue. Pediatr Res25(2):151-155, 1989.
-
(1989)
Pediatr Res
, vol.25
, Issue.2
, pp. 151-155
-
-
Xu, Y.K.1
Ng, W.G.2
Kaufman, F.R.3
Lobo, R.A.4
Donnell, G.N.5
-
42
-
-
0026523701
-
Erythrocytic uridine diphosphate galactose in galactosemia
-
KirkmanHN: Erythrocytic uridine diphosphate galactose in galactosemia. J Inher Metab Dis15:4-16, 1992.
-
(1992)
J Inher Metab Dis
, vol.15
, pp. 4-16
-
-
Kirkman, H.N.1
-
43
-
-
0027300431
-
An evaluation of enzyme methods for estimation of uridine diphosglucose in red blood cells
-
HoltonJB, StoneJE, KeevillNJ: An evaluation of enzyme methods for estimation of uridine diphosglucose in red blood cells. International Pediatrics8(1):114-117, 1993.
-
(1993)
International Pediatrics
, vol.8
, Issue.1
, pp. 114-117
-
-
Holton, J.B.1
Stone, J.E.2
Keevill, N.J.3
-
44
-
-
34547387227
-
Effect of oral uridine in classic galactosemia
-
KaufmanFR, NgWG, XuYK, ManisF, CohnL, GrayS, NelsonM, HoltonB, CrossC, Wolff J, Donnell GN: Effect of oral uridine in classic galactosemia. 8th International Neonatal Screening Symposium Abstract47, 1991.
-
(1991)
8Th International Neonatal Screening Symposium Abstract
, pp. 47
-
-
Kaufman, F.R.1
Ng, W.G.2
Xu, Y.K.3
Manis, F.4
Cohn, L.5
Gray, S.6
Nelson, M.7
Holton, B.8
Cross, C.9
Wolff, J.10
Donnell, G.N.11
-
45
-
-
0023924717
-
Correlation of ovarian function with glactose-l-phosphate uridyl transferase levels in galactosaemia
-
KaufmanFR, XuYK, NgWG, DonnellGN: Correlation of ovarian function with glactose-l-phosphate uridyl transferase levels in galactosaemia. J Pediatr112:754-756, 1988.
-
(1988)
J Pediatr
, vol.112
, pp. 754-756
-
-
Kaufman, F.R.1
Xu, Y.K.2
Ng, W.G.3
Donnell, G.N.4
-
46
-
-
0027197831
-
Effect of hypogonadism and deficient calcium intake on bone density in patients with galactosaemia
-
KaufmanFR, LoroML, AzenC, WenzE, GilsanzV: Effect of hypogonadism and deficient calcium intake on bone density in patients with galactosaemia. J Pediatr123:365-370, 1993.
-
(1993)
J Pediatr
, vol.123
, pp. 365-370
-
-
Kaufman, F.R.1
Loro, M.L.2
Azen, C.3
Wenz, E.4
Gilsanz, V.5
-
48
-
-
0020486551
-
Clouds over galactosaemia. (Editorial)
-
Anonymous
-
Anonymous: Clouds over galactosaemia. (Editorial). Lancet ii: 1379-1380, 1984.
-
(1984)
Lancet
, vol.2
, pp. 1379-1380
-
-
-
49
-
-
0027944679
-
Leonard N: Clouds still gathering over galactosaemia. (Commentary)
-
HoltonJB, Leonard N: Clouds still gathering over galactosaemia. (Commentary). Lancet344:1242-1243, 1994.
-
(1994)
Lancet
, vol.344
, pp. 1242-1243
-
-
Holton, J.B.1
-
50
-
-
0028796902
-
Window in clouds over galactosaemia? (Letter)
-
AllenRJ: Window in clouds over galactosaemia? (Letter). Lancet345:128, 1995.
-
(1995)
Lancet
, vol.345
, pp. 128
-
-
Allen, R.J.1
|