메뉴 건너뛰기




Volumn 33, Issue 3, 2005, Pages 153-161

An updated review of the long-term neurological effects of galactosemia

Author keywords

[No Author keywords available]

Indexed keywords

GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE;

EID: 27644434993     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2005.02.015     Document Type: Review
Times cited : (102)

References (91)
  • 1
    • 0348099025 scopus 로고
    • Zuckerausscheidung in säuglinsalter
    • von Reuss A. Zuckerausscheidung in säuglinsalter. Wein Med Wschr 1908;58:799-800.
    • (1908) Wein Med Wschr , vol.58 , pp. 799-800
    • Von Reuss, A.1
  • 2
    • 77049288110 scopus 로고
    • A clinical and biochemical study of galactosaemia: A possible explanation for the nature of the biochemical lesion
    • Komrower GM, Schwartz RP, Holzel A, Golberg A. A clinical and biochemical study of galactosaemia: A possible explanation for the nature of the biochemical lesion. Arch Dis Child 1956;31:254-64.
    • (1956) Arch Dis Child , vol.31 , pp. 254-264
    • Komrower, G.M.1    Schwartz, R.P.2    Holzel, A.3    Golberg, A.4
  • 3
    • 8244227404 scopus 로고
    • Galactosemia, a congenital defect in a nucleotide transferase
    • Kalckar H, Anderson E, Isselbacher K. Galactosemia, a congenital defect in a nucleotide transferase. Biochim Biophys Acta 1956;20:262-8.
    • (1956) Biochim Biophys Acta , vol.20 , pp. 262-268
    • Kalckar, H.1    Anderson, E.2    Isselbacher, K.3
  • 4
  • 5
    • 0013693366 scopus 로고
    • A new method for the detection of galactosemia and its carrier state
    • Beutler E, Baluda M, Donnell G. A new method for the detection of galactosemia and its carrier state. J Lab Clin Med 1964;64:694-705.
    • (1964) J Lab Clin Med , vol.64 , pp. 694-705
    • Beutler, E.1    Baluda, M.2    Donnell, G.3
  • 6
    • 0021127337 scopus 로고
    • Galactosemia: How does long-term treatment change the outcome?
    • Gitzelmann R, Steinmann B. Galactosemia: How does long-term treatment change the outcome? Enzyme 1984;32:37-46.
    • (1984) Enzyme , vol.32 , pp. 37-46
    • Gitzelmann, R.1    Steinmann, B.2
  • 7
    • 0021369112 scopus 로고
    • Curious neurologic sequelae in galactosemia
    • Lo W, Packman S, Nash S, et al. Curious neurologic sequelae in galactosemia. Pediatrics 1984;73:309-12.
    • (1984) Pediatrics , vol.73 , pp. 309-312
    • Lo, W.1    Packman, S.2    Nash, S.3
  • 8
    • 0025648036 scopus 로고
    • Long-term prognosis in galactosaemia: Results of a survey of 350 cases
    • Waggoner D, Buist N, Donnell G. Long-term prognosis in galactosaemia: Results of a survey of 350 cases. J Inher Metab Dis 1990;13:802-18.
    • (1990) J Inher Metab Dis , vol.13 , pp. 802-818
    • Waggoner, D.1    Buist, N.2    Donnell, G.3
  • 10
    • 0032766493 scopus 로고    scopus 로고
    • Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers
    • Murphy M, McHugh B, Tighe O, et al. Genetic basis of transferase- deficient galactosaemia in Ireland and the population history of the Irish Travellers. Eur J Hum Genet 1999;7:549-54.
    • (1999) Eur J Hum Genet , vol.7 , pp. 549-554
    • Murphy, M.1    McHugh, B.2    Tighe, O.3
  • 11
    • 0032728250 scopus 로고    scopus 로고
    • Molecular basis for phenotypic heterogeneity in galactosaemia: Prediction of clinical phenotype from genotype in Japanese patients
    • Hirokawa H, Okano Y, Asada M, Fujimoto A, Suyama I, Isshiki G. Molecular basis for phenotypic heterogeneity in galactosaemia: Prediction of clinical phenotype from genotype in Japanese patients. Eur J Hum Genet 1999;7:757-64.
    • (1999) Eur J Hum Genet , vol.7 , pp. 757-764
    • Hirokawa, H.1    Okano, Y.2    Asada, M.3    Fujimoto, A.4    Suyama, I.5    Isshiki, G.6
  • 13
    • 0028899506 scopus 로고
    • Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family
    • Fridovich-Keil JL, Langley SD, Mazur LA, Lennon JC, Dembure PP, Elsas JL 2nd. Identification and functional analysis of three distinct mutations in the human galactose-1-phosphate uridyltransferase gene associated with galactosemia in a single family [see comment]. Am J Hum Genet 1995;56:640-6.
    • (1995) Am J Hum Genet , vol.56 , pp. 640-646
    • Fridovich-Keil, J.L.1    Langley, S.D.2    Mazur, L.A.3    Lennon, J.C.4    Dembure, P.P.5    Elsas II, J.L.6
  • 14
    • 4744347780 scopus 로고    scopus 로고
    • Differential roles of the Leloir pathway enzymes and metabolites in defining galactose sensitivity in yeast
    • Ross KL, Davis CN, Fridovich-Keil JL. Differential roles of the Leloir pathway enzymes and metabolites in defining galactose sensitivity in yeast. Molec Genet Metab 2004;83:103-16.
    • (2004) Molec Genet Metab , vol.83 , pp. 103-116
    • Ross, K.L.1    Davis, C.N.2    Fridovich-Keil, J.L.3
  • 15
    • 2642581775 scopus 로고    scopus 로고
    • The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa
    • Henderson H, Leisegang F, Brown R, Eley B. The clinical and molecular spectrum of galactosemia in patients from the Cape Town region of South Africa. BMC Pediatrics 2002;2:7.
    • (2002) BMC Pediatrics , vol.2 , pp. 7
    • Henderson, H.1    Leisegang, F.2    Brown, R.3    Eley, B.4
  • 17
    • 0034788782 scopus 로고    scopus 로고
    • Structure-function analyses of a common mutation in blacks with transferase-deficiency galactosemia
    • Lai K, Elsas LJ. Structure-function analyses of a common mutation in blacks with transferase-deficiency galactosemia. Molec Genet Metab 2001;74:264-72.
    • (2001) Molec Genet Metab , vol.74 , pp. 264-272
    • Lai, K.1    Elsas, L.J.2
  • 18
    • 0034834630 scopus 로고    scopus 로고
    • Oxidation of galactose by galactose-1-phosphate uridyltransferase- deficient lymphoblasts
    • Yager C, Gibson J, States B, Elsas LJ, Segal S. Oxidation of galactose by galactose-1-phosphate uridyltransferase-deficient lymphoblasts. J Inherit Metab Dis 2001;24:465-76.
    • (2001) J Inherit Metab Dis , vol.24 , pp. 465-476
    • Yager, C.1    Gibson, J.2    States, B.3    Elsas, L.J.4    Segal, S.5
  • 19
    • 0032195337 scopus 로고    scopus 로고
    • The molecular biology of galactosemia
    • Elsas LJ 2nd, Lai K. The molecular biology of galactosemia. Genetics in Medicine 1998;1:40-8.
    • (1998) Genetics in Medicine , vol.1 , pp. 40-48
    • Elsas II, L.J.1    Lai, K.2
  • 20
    • 0024339542 scopus 로고
    • Evaluation of reduced activity galactose-1-phosphate uridyl transferase by combined radioisotopic assay and high-resolution isoelectric focusing
    • Kelley R, Segal S. Evaluation of reduced activity galactose-1-phosphate uridyl transferase by combined radioisotopic assay and high-resolution isoelectric focusing. J Lab Clin Med 1989;114:152-6.
    • (1989) J Lab Clin Med , vol.114 , pp. 152-156
    • Kelley, R.1    Segal, S.2
  • 21
    • 0030367977 scopus 로고    scopus 로고
    • Vitreous hemorrhage as an ophthalmic complication of galactosemia
    • Levy HL, Brown AE, Williams SE, de Juan E Jr. Vitreous hemorrhage as an ophthalmic complication of galactosemia. J Pediatr 1996;129:922-5.
    • (1996) J Pediatr , vol.129 , pp. 922-925
    • Levy, H.L.1    Brown, A.E.2    Williams, S.E.3    De Juan Jr., E.4
  • 22
    • 0031818023 scopus 로고    scopus 로고
    • Komrower Lecture. Galactosaemia today: The enigma and the challenge
    • Segal S. Komrower Lecture. Galactosaemia today: The enigma and the challenge. J Inherit Metab Dis 1998;21:455-71.
    • (1998) J Inherit Metab Dis , vol.21 , pp. 455-471
    • Segal, S.1
  • 24
    • 0033056166 scopus 로고    scopus 로고
    • Recommendations for the management of galactosemia
    • Walter J, Collins J, Leonard J. Recommendations for the management of galactosemia. Arch Dis Child 1999;80:93-6.
    • (1999) Arch Dis Child , vol.80 , pp. 93-96
    • Walter, J.1    Collins, J.2    Leonard, J.3
  • 25
    • 0346040222 scopus 로고    scopus 로고
    • Identification of sequence variation in the galactose-1-phosphate uridyl transferase gene by dHPLC
    • Flanagan JM, Tighe O, O'Neill C, Naughten E, Mayne PD, Croke DT. Identification of sequence variation in the galactose-1-phosphate uridyl transferase gene by dHPLC. Molec Genet Metab 2004;81:133-6.
    • (2004) Molec Genet Metab , vol.81 , pp. 133-136
    • Flanagan, J.M.1    Tighe, O.2    O'Neill, C.3    Naughten, E.4    Mayne, P.D.5    Croke, D.T.6
  • 29
    • 0029085509 scopus 로고
    • Gonadal function in galactosemics and in galactose-intoxicated animals
    • Gibson J. Gonadal function in galactosemics and in galactose-intoxicated animals. Eur J Pediatr 1995;154:S14-20.
    • (1995) Eur J Pediatr , vol.154
    • Gibson, J.1
  • 30
    • 0031015317 scopus 로고    scopus 로고
    • Altered follicle stimulating hormone isoforms in female galactosaemia patients
    • Prestoz LL, Couto AS, Shin YS, Petry KG. Altered follicle stimulating hormone isoforms in female galactosaemia patients. Eur J Pediatr 1997;156:116-20.
    • (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
  • 32
    • 37049244896 scopus 로고
    • Galactose toxicity in the chick: Hyperosmolality or depressed brain energy reserves?
    • Knull H, Wells W, Kozak L. Galactose toxicity in the chick: Hyperosmolality or depressed brain energy reserves? Science 1972;176: 815-6.
    • (1972) Science , vol.176 , pp. 815-816
    • Knull, H.1    Wells, W.2    Kozak, L.3
  • 34
    • 0022485121 scopus 로고
    • Computed tomographic demonstration of cerebral edema in a child with galactosemia
    • Belman A, Moshe S, Zimmerman R. Computed tomographic demonstration of cerebral edema in a child with galactosemia. Pediatrics 1986;78:606-9.
    • (1986) Pediatrics , vol.78 , pp. 606-609
    • Belman, A.1    Moshe, S.2    Zimmerman, R.3
  • 35
    • 0021742187 scopus 로고
    • Galactose neuropathy: Impact of chronic endoneurial edema on nerve blood flow
    • Myers R, Powell H. Galactose neuropathy: Impact of chronic endoneurial edema on nerve blood flow. Ann Neurol 1984;16:587-94.
    • (1984) Ann Neurol , vol.16 , pp. 587-594
    • Myers, R.1    Powell, H.2
  • 37
    • 0029060921 scopus 로고
    • Galactosemia: Relationship of IQ to biochemical control and genotype
    • Cleary M, Heptinstall L, Wraith J, Walter J. Galactosemia: Relationship of IQ to biochemical control and genotype. J Inher Metab Dis 1995;18:151-2.
    • (1995) J Inher Metab Dis , vol.18 , pp. 151-152
    • Cleary, M.1    Heptinstall, L.2    Wraith, J.3    Walter, J.4
  • 40
    • 0033856120 scopus 로고    scopus 로고
    • The relationship of genotype to cognitive outcome in galactosemia
    • Shield J, Wadsworth E, MacDonald A, et al. The relationship of genotype to cognitive outcome in galactosemia. Arch Dis Child 2000; 83:248-50.
    • (2000) Arch Dis Child , vol.83 , pp. 248-250
    • Shield, J.1    Wadsworth, E.2    MacDonald, A.3
  • 41
    • 5444237013 scopus 로고    scopus 로고
    • Cognitive strengths and weaknesses in children and adolescents homozygous for the galactosemia Q188R mutation: A descriptive study
    • Antshel KM, Epstein IO, Waisbren SE. Cognitive strengths and weaknesses in children and adolescents homozygous for the galactosemia Q188R mutation: A descriptive study. Neuropsychology 2004;18:658-64.
    • (2004) Neuropsychology , vol.18 , pp. 658-664
    • Antshel, K.M.1    Epstein, I.O.2    Waisbren, S.E.3
  • 42
    • 0028108199 scopus 로고
    • Correlation of cognitive, neurologic, and ovarian outcome with the Q188R mutation of the galactose-1-phosphate uridyltransferase gene
    • Kaufman FR, Reichardt JK, Ng WG, et al. Correlation of cognitive, neurologic, and ovarian outcome with the Q188R mutation of the galactose-1-phosphate uridyltransferase gene. J Pediatr 1994; 125:225-7.
    • (1994) J Pediatr , vol.125 , pp. 225-227
    • Kaufman, F.R.1    Reichardt, J.K.2    Ng, W.G.3
  • 43
    • 0018918651 scopus 로고
    • Developmental aspects of galactosemia from infancy to childhood
    • Fishier K, Koch R, Donnell GN, Wenz E. Developmental aspects of galactosemia from infancy to childhood. Clin Pediatr 1980; 19:38-44.
    • (1980) Clin Pediatr , vol.19 , pp. 38-44
    • Fishier, K.1    Koch, R.2    Donnell, G.N.3    Wenz, E.4
  • 45
    • 0029112149 scopus 로고
    • Verbal dyspraxia in children with galactosemia
    • Nelson D. Verbal dyspraxia in children with galactosemia. Eur J Pediatr 1995;154:S6-7.
    • (1995) Eur J Pediatr , vol.154
    • Nelson, D.1
  • 46
    • 0023676674 scopus 로고
    • Management strategies for developmental apraxia of speech: A review of literature
    • Pannbacker M. Management strategies for developmental apraxia of speech: A review of literature. J Communica Disord 1988;21: 363-71.
    • (1988) J Communica Disord , vol.21 , pp. 363-371
    • Pannbacker, M.1
  • 47
    • 0022903474 scopus 로고
    • Progressive cerebellar and extrapyramidal motor disturbances in galactosemic twins
    • Bohles H, Wenzel D, Shin Y. Progressive cerebellar and extrapyramidal motor disturbances in galactosemic twins. Eur J Pediatr 1986;145:413-7.
    • (1986) Eur J Pediatr , vol.145 , pp. 413-417
    • Bohles, H.1    Wenzel, D.2    Shin, Y.3
  • 48
    • 0024551084 scopus 로고
    • Late onset of distinct neurologic syndromes in galactosemic siblings
    • Friednian J, Levy H, Boustany R. Late onset of distinct neurologic syndromes in galactosemic siblings. Neurology 1989;39: 741-2.
    • (1989) Neurology , vol.39 , pp. 741-742
    • Friednian, J.1    Levy, H.2    Boustany, R.3
  • 49
    • 0015580465 scopus 로고
    • Unusual late neurological sequelae in galactosemia
    • Jan J, Wilson R. Unusual late neurological sequelae in galactosemia. Dev Med Child Neurol 1973;15:72-4.
    • (1973) Dev Med Child Neurol , vol.15 , pp. 72-74
    • Jan, J.1    Wilson, R.2
  • 50
    • 0000841548 scopus 로고
    • Formation of polyols by the lens of the rat with "sugar" cataracts
    • Van Heyningen R. Formation of polyols by the lens of the rat with "sugar" cataracts. Nature 1959;184:194-5.
    • (1959) Nature , vol.184 , pp. 194-195
    • Van Heyningen, R.1
  • 51
    • 0014031188 scopus 로고
    • 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 1966;153:549-51.
    • (1966) Science , vol.153 , pp. 549-551
    • Cuatrecasas, P.1    Segal, S.2
  • 52
    • 0026346397 scopus 로고
    • 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 HT, Nudelman E, et al. 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 1991; 46:93-104.
    • (1991) Biochem Med Metab Biol , vol.46 , pp. 93-104
    • Petry, K.1    Greinix, H.T.2    Nudelman, E.3
  • 54
    • 0029084238 scopus 로고
    • Hidden sources of galactose in the environment
    • Acosta P, Gross K. Hidden sources of galactose in the environment. Eur J Pediatr 1995;154:S87-92.
    • (1995) Eur J Pediatr , vol.154
    • Acosta, P.1    Gross, K.2
  • 55
    • 0028879596 scopus 로고
    • Endogenous synthesis of galactose in normal men and patients with hereditary galactosemia
    • Berry G, Nissim I, Lin Z, Mazur A, Gibson J, Segal S. Endogenous synthesis of galactose in normal men and patients with hereditary galactosemia. Lancet 1995;346:1073-4.
    • (1995) Lancet , vol.346 , pp. 1073-1074
    • Berry, G.1    Nissim, I.2    Lin, Z.3    Mazur, A.4    Gibson, J.5    Segal, S.6
  • 56
    • 0029093465 scopus 로고
    • Effects of galactosemia in utero
    • Holton J. Effects of galactosemia in utero. Eur J Pediatr 1995;154:S77-81.
    • (1995) Eur J Pediatr , vol.154
    • Holton, J.1
  • 57
    • 0022390120 scopus 로고
    • Accumulation of galactose-1-phosphate in the galactosemic fetus despite maternal milk avoidance
    • Irons M, Levy H, Pueschel S, Castree K. Accumulation of galactose-1-phosphate in the galactosemic fetus despite maternal milk avoidance. J Pediatr 1985;107:261-3.
    • (1985) J Pediatr , vol.107 , pp. 261-263
    • Irons, M.1    Levy, H.2    Pueschel, S.3    Castree, K.4
  • 58
    • 0024205911 scopus 로고
    • Dietary restriction of maternal lactose intake does not prevent accumulation of galactitol in the amniotic fluid of fetuses affected with galactosemia
    • Jakobs C, Kleijer W, Bakker H, Van Gennip A, Przyrembel H, Niermeijer M. Dietary restriction of maternal lactose intake does not prevent accumulation of galactitol in the amniotic fluid of fetuses affected with galactosemia. Prenatal Diagn 1988;8:641-5.
    • (1988) Prenatal Diagn , vol.8 , pp. 641-645
    • Jakobs, C.1    Kleijer, W.2    Bakker, H.3    Van Gennip, A.4    Przyrembel, H.5    Niermeijer, M.6
  • 61
    • 0014334824 scopus 로고
    • Inositol changes in nerve and lens of galactose fed rats
    • Stewart M, Kurien M, Sherman W, Cotlier E. Inositol changes in nerve and lens of galactose fed rats. J Neurochem 1968;15:941-6.
    • (1968) J Neurochem , vol.15 , pp. 941-946
    • Stewart, M.1    Kurien, M.2    Sherman, W.3    Cotlier, E.4
  • 62
    • 0014071787 scopus 로고
    • Galactose toxicity and myo-inositol metabolism in the developing rat brain
    • Wells H, Wells W. Galactose toxicity and myo-inositol metabolism in the developing rat brain. Biochemistry 1967;6:1168-73.
    • (1967) Biochemistry , vol.6 , pp. 1168-1173
    • Wells, H.1    Wells, W.2
  • 63
    • 0018088448 scopus 로고
    • Myo-inositol and phosphatidylinositol in synaptosomes from galactose-fed rats
    • Warfield A, Segal S. Myo-inositol and phosphatidylinositol in synaptosomes from galactose-fed rats. Proc Natl Acad Sci 1978;75:45-68.
    • (1978) Proc Natl Acad Sci , vol.75 , pp. 45-68
    • Warfield, A.1    Segal, S.2
  • 64
    • 0032972816 scopus 로고    scopus 로고
    • Peripheral nerve structure and function in long-term galactosemic dogs: Morphometric and electron microscopic analyses
    • Sugimoto K, Kasahara T, Yonezawa H, Yagihashi S. Peripheral nerve structure and function in long-term galactosemic dogs: Morphometric and electron microscopic analyses. Acta Neuropathol (Berl) 1999;97:369-76.
    • (1999) Acta Neuropathol (Berl) , vol.97 , pp. 369-376
    • Sugimoto, K.1    Kasahara, T.2    Yonezawa, H.3    Yagihashi, S.4
  • 65
    • 0026514545 scopus 로고
    • The enigma of galactosemia
    • Segal S. The enigma of galactosemia. Internat Pediatr 1992;7: 75-82.
    • (1992) Internat Pediatr , vol.7 , pp. 75-82
    • Segal, S.1
  • 66
    • 0030273135 scopus 로고    scopus 로고
    • A mouse model of galactose-1-phosphate uridyl transferase deficiency
    • Leslie ND, Yager KL, McNamara PD, Segal S. A mouse model of galactose-1-phosphate uridyl transferase deficiency. Biochem Molec Med 1996:59:7-12.
    • (1996) Biochem Molec Med , vol.59 , pp. 7-12
    • Leslie, N.D.1    Yager, K.L.2    McNamara, P.D.3    Segal, S.4
  • 67
    • 0033914738 scopus 로고    scopus 로고
    • Galactose metabolism by the mouse with galactose-1-phosphate uridyltransferase deficiency
    • Ning C, Reynolds R, Chen J, et al. Galactose metabolism by the mouse with galactose-1-phosphate uridyltransferase deficiency. Pediatr Res 2000;48:211-7.
    • (2000) Pediatr Res , vol.48 , pp. 211-217
    • Ning, C.1    Reynolds, R.2    Chen, J.3
  • 68
    • 27644580679 scopus 로고
    • A case of galactosemia with the pathological and neuropathological findings
    • Crome L. A case of galactosemia with the pathological and neuropathological findings. Arch Dis Child 1962;37:415-21.
    • (1962) Arch Dis Child , vol.37 , pp. 415-421
    • Crome, L.1
  • 69
    • 0026509861 scopus 로고
    • Regional activity of galactose-1-phosphate uridyltransferase in rat brain
    • Rogers S, Heidenreich R, Mallee J, Segal S. Regional activity of galactose-1-phosphate uridyltransferase in rat brain. Pediatr Res 1992;31:512-5.
    • (1992) Pediatr Res , vol.31 , pp. 512-515
    • Rogers, S.1    Heidenreich, R.2    Mallee, J.3    Segal, S.4
  • 70
    • 0015098395 scopus 로고
    • The neuropathology of galactosemia: A histopathological and biochemical study
    • Haberland C, Perou M, Brunngraber EG, Hof H. The neuropathology of galactosemia: A histopathological and biochemical study. J Neuropathol Exp Neurol 1971;30:431-47.
    • (1971) J Neuropathol Exp Neurol , vol.30 , pp. 431-447
    • Haberland, C.1    Perou, M.2    Brunngraber, E.G.3    Hof, H.4
  • 72
    • 0029160218 scopus 로고
    • Defective galactosylation in galactosemia: Is low cell UDPgalactose an explanation?
    • Segal S. Defective galactosylation in galactosemia: Is low cell UDPgalactose an explanation? Eur J Pediatr 1995;154:S65-71.
    • (1995) Eur J Pediatr , vol.154
    • Segal, S.1
  • 73
    • 0028881501 scopus 로고
    • Abnormal somatosensory evoked potentials in patients with classic galactosemia: Correlation with neurologic outcome
    • Kaufman FR, Horton EJ, Gott P, et al. Abnormal somatosensory evoked potentials in patients with classic galactosemia: Correlation with neurologic outcome. J Child Neurol 1995;10:32-6.
    • (1995) J Child Neurol , vol.10 , pp. 32-36
    • Kaufman, F.R.1    Horton, E.J.2    Gott, P.3
  • 76
    • 0033168957 scopus 로고    scopus 로고
    • Monogenic traits are not simple: Lessons from phenylketonuria
    • Scriver CR, Waters PJ. Monogenic traits are not simple: Lessons from phenylketonuria. Trends in Genetics 1999;15:267-72.
    • (1999) Trends in Genetics , vol.15 , pp. 267-272
    • Scriver, C.R.1    Waters, P.J.2
  • 77
    • 0033799531 scopus 로고    scopus 로고
    • Modifier genes convert "simple" Mendelian disorders to complex traits
    • Dipple KM, McCabe ER. Modifier genes convert "simple" Mendelian disorders to complex traits. Molec Genet Metab 2000;71:43-50.
    • (2000) Molec Genet Metab , vol.71 , pp. 43-50
    • Dipple, K.M.1    McCabe, E.R.2
  • 78
    • 0033805111 scopus 로고    scopus 로고
    • Apparent galactose appearance rate in human galactosemia based on plasma [(13)C]galactose isotopic enrichment
    • Ning C, Fenn PT, Blair IA, Berry GT, Segal S. Apparent galactose appearance rate in human galactosemia based on plasma [(13)C]galactose isotopic enrichment. Molec Genet Metab 2000;70:261-71.
    • (2000) Molec Genet Metab , vol.70 , pp. 261-271
    • Ning, C.1    Fenn, P.T.2    Blair, I.A.3    Berry, G.T.4    Segal, S.5
  • 80
    • 0347320580 scopus 로고    scopus 로고
    • Age dependence of endogenous galactose formation in Q188R homozygous galactosemic patients
    • Schadewaldt P, Kamalanathan L, Hammen HW, Wendel U. Age dependence of endogenous galactose formation in Q188R homozygous galactosemic patients. Molec Genet Metab 2004;81:31-44.
    • (2004) Molec Genet Metab , vol.81 , pp. 31-44
    • Schadewaldt, P.1    Kamalanathan, L.2    Hammen, H.W.3    Wendel, U.4
  • 81
    • 0347320579 scopus 로고    scopus 로고
    • The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency
    • Berry GT, Moate PJ, Reynolds RA, et al. The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency. Molec Genet Metab 2004;81:22-30.
    • (2004) Molec Genet Metab , vol.81 , pp. 22-30
    • Berry, G.T.1    Moate, P.J.2    Reynolds, R.A.3
  • 82
    • 0027476691 scopus 로고
    • 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. The effect of dietary fruits and vegetables on urinary galactitol excretion in galactose-1-phosphate uridyltransferase deficiency. J Inher Metab Dis 1993;16:91-100.
    • (1993) J Inher Metab Dis , vol.16 , pp. 91-100
    • Berry, G.T.1    Palmieri, M.2    Gross, K.C.3
  • 84
    • 0027197831 scopus 로고
    • Effect of hypogonadism and deficient calcium intake on bone density in patients with galactosemia
    • Kaufman F, Loro M, Azen C, Wenz E, Gilsanz V. Effect of hypogonadism and deficient calcium intake on bone density in patients with galactosemia. J Pediatr 1993;123:365-70.
    • (1993) J Pediatr , vol.123 , pp. 365-370
    • Kaufman, F.1    Loro, M.2    Azen, C.3    Wenz, E.4    Gilsanz, V.5
  • 86
    • 0020486551 scopus 로고
    • Clouds over galactosemia
    • Clouds over galactosemia. Lancet 1982;2:1379-80.
    • (1982) Lancet , vol.2 , pp. 1379-1380
  • 87
    • 0043237948 scopus 로고    scopus 로고
    • A woman with untreated galactosaemia
    • erratum appears in Lancet. 2004 Jul 24; 364(9431):330
    • Lee PJ, Lilburn M, Wendel U, Schadewaldt P. A woman with untreated galactosaemia. [erratum appears in Lancet. 2004 Jul 24; 364(9431):330]. Lancet 2003;362:446.
    • (2003) Lancet , vol.362 , pp. 446
    • Lee, P.J.1    Lilburn, M.2    Wendel, U.3    Schadewaldt, P.4
  • 89
    • 1242292942 scopus 로고    scopus 로고
    • Another aspect of the galactosemia enigma
    • Segal S. Another aspect of the galactosemia enigma. Molec Genet Metab 2004;81:253-4.
    • (2004) Molec Genet Metab , vol.81 , pp. 253-254
    • Segal, S.1
  • 90
    • 0030878583 scopus 로고    scopus 로고
    • 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, Wolff JA, Kaufman FR. A longitudinal study of cognitive functioning in patients with classical galactosaemia, including a cohort treated with oral uridine. J Inher Metab Dis 1997;20:549-55.
    • (1997) J Inher Metab Dis , vol.20 , pp. 549-555
    • Manis, F.R.1    Cohn, L.B.2    McBride-Chang, C.3    Wolff, J.A.4    Kaufman, F.R.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.