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Volumn 81, Issue 3, 2004, Pages 253-254

Another aspect of the galactosemia enigma

Author keywords

[No Author keywords available]

Indexed keywords

GALACTITOL; GALACTOSE; GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE; SUGAR;

EID: 1242292942     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2003.12.002     Document Type: Letter
Times cited : (7)

References (22)
  • 1
    • 0000429065 scopus 로고    scopus 로고
    • Galactosemia today: the enigma and the challenge
    • S. Segal Galactosemia today: the enigma and the challenge J. Inherit. Metab. Dis. 21 1998 445 471
    • (1998) J. Inherit. Metab. Dis. , vol.21 , pp. 445-471
    • Segal, S.1
  • 2
    • 0025648036 scopus 로고
    • Long term prognosis in galactosemia: results of a survey of 350 cases
    • D.D. Wagganer N.R.M. Biest G. Donnell Long term prognosis in galactosemia: results of a survey of 350 cases J. Inherit. Metab. Dis. 13 1990 802 818
    • (1990) J. Inherit. Metab. Dis. , vol.13 , pp. 802-818
    • Wagganer, D.D.1    Biest, N.R.M.2    Donnell, G.3
  • 4
    • 0000029655 scopus 로고
    • Disorders of galactose metabolism
    • S. Segal G.T. Berry Disorders of galactose metabolism C.R. Scriver A.L. Beaudet W.S. Sly D. Valle The Metabolic and Molecular Bases of Inherited Diseases seventh ed 1995 McGraw-Hill New York 967 1000
    • (1995) , pp. 967-1000
    • Segal, S.1    Berry, G.T.2
  • 6
    • 0001511188 scopus 로고
    • The oxidation of 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 1968 340 347
    • (1968) Am. J. Med. , vol.44 , pp. 340-347
    • Segal, S.1    Cuatrecasas, P.2
  • 7
    • 0030703213 scopus 로고    scopus 로고
    • Urinary galactonate in patients with galactosemia: Quantitation by nuclear magnetic resonance spectroscopy
    • L.S. Wehrli G.T. Berry M. Palmieri A. Mazur L. Elias III S. Segal Urinary galactonate in patients with galactosemia: Quantitation by nuclear magnetic resonance spectroscopy Pediatr. Res. 42 1997 858 861
    • (1997) Pediatr. Res. , vol.42 , pp. 858-861
    • Wehrli, L.S.1    Berry, G.T.2    Palmieri, M.3    Mazur, A.4    Elias III, L.5    Segal, S.6
  • 8
    • 0016329163 scopus 로고
    • Uridine diphosphate glucose pyrophosphorylase crystallization and properties of the enzyme from rabbit liver and species comparison
    • R.L. Turnquist T.A. Gillett R.G. Hensen Uridine diphosphate glucose pyrophosphorylase crystallization and properties of the enzyme from rabbit liver and species comparison J. Biol. Chem. 249 1974 7695 7700
    • (1974) J. Biol. Chem. , vol.249 , pp. 7695-7700
    • Turnquist, R.L.1    Gillett, T.A.2    Hensen, R.G.3
  • 9
    • 0036920203 scopus 로고    scopus 로고
    • Metabolism of 13C galactose by lymphoblasts from patients with galactosemia determined by NMR spectroscopy
    • 13C galactose by lymphoblasts from patients with galactosemia determined by NMR spectroscopy Mol. Genet. Metab. 77 2002 296 303
    • (2002) Mol. Genet. Metab. , vol.77 , pp. 296-303
    • Wehrli, S.L.1    Reynolds, R.2    Chen, J.3    Yager, C.4    Segal, S.5
  • 11
    • 0035715102 scopus 로고    scopus 로고
    • Galactose metabolism in mice with galactose-1-phosphate uridyltransferase deficiency: sucklings and 7-week old animals fed a high-galactose diet
    • C. Ning R. Reynolds J. Chen C. Yager G.T. Berry N. Leslie S. Segal Galactose metabolism in mice with galactose-1-phosphate uridyltransferase deficiency: sucklings and 7-week old animals fed a high-galactose diet Mol. Genet. Metab. 73 2001 306 315
    • (2001) Mol. Genet. Metab. , vol.73 , pp. 306-315
    • Ning, C.1    Reynolds, R.2    Chen, J.3    Yager, C.4    Berry, G.T.5    Leslie, N.6    Segal, S.7
  • 12
    • 0013973283 scopus 로고
    • Galactitol in the tissues of a galactosemic child
    • R. Quan-Ma H.J. Wells W.W. Wells Galactitol in the tissues of a galactosemic child Am. J. Dis. Child 112 1966 477 478
    • (1966) Am. J. Dis. Child , vol.112 , pp. 477-478
    • Quan-Ma, R.1    Wells, H.J.2    Wells, W.W.3
  • 14
    • 0346040220 scopus 로고    scopus 로고
    • Galactitol and galactonate accumulation in heart and skeletal muscle of mice with deficiency of galactose-1-phosphate uridyltransferase
    • C. Yager C. Ning R. Reynolds S. Segal Galactitol and galactonate accumulation in heart and skeletal muscle of mice with deficiency of galactose-1-phosphate uridyltransferase Mol. Genet. Metab. 81 2004 105 111
    • (2004) Mol. Genet. Metab. , vol.81 , pp. 105-111
    • Yager, C.1    Ning, C.2    Reynolds, R.3    Segal, S.4
  • 16
    • 0028946316 scopus 로고
    • Demonstration that polyol accumulation is responsible for diabetic cataract by use of transgenic mice expressing aldose reductase in the lens
    • A.Y. Lee S.K. Chunag S.S. Chuang Demonstration that polyol accumulation is responsible for diabetic cataract by use of transgenic mice expressing aldose reductase in the lens Proc. Natl. Acad. Sci. USA 92 1995 2780 2784
    • (1995) Proc. Natl. Acad. Sci. USA , vol.92 , pp. 2780-2784
    • Lee, A.Y.1    Chunag, S.K.2    Chuang, S.S.3
  • 17
    • 0033168957 scopus 로고    scopus 로고
    • Monogenic traits are not simple: lessons from phenylketonuria
    • C.R. Scriver P.J. Waters Monogenic traits are not simple: lessons from phenylketonuria Trends Genet. 15 1999 267 272
    • (1999) Trends Genet. , vol.15 , pp. 267-272
    • Scriver, C.R.1    Waters, P.J.2
  • 18
    • 0033911995 scopus 로고    scopus 로고
    • Phenotypes of patients with “simple” Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics
    • K.M. Dipple E.R.B. McCabe Phenotypes of patients with “simple” Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics Am. J. Hum. Genet. 66 2000 1729 1735
    • (2000) Am. J. Hum. Genet. , vol.66 , pp. 1729-1735
    • Dipple, K.M.1    McCabe, E.R.B.2
  • 19
    • 0033799531 scopus 로고    scopus 로고
    • Modifier genes convert “simple” Mendelian disorders to complex traits
    • K.M. Dipple E.R.B. McCabe Modifier genes convert “simple” Mendelian disorders to complex traits Mol. Genet. Metab. 71 2000 43 50
    • (2000) Mol. Genet. Metab. , vol.71 , pp. 43-50
    • Dipple, K.M.1    McCabe, E.R.B.2
  • 20
    • 0034788710 scopus 로고    scopus 로고
    • Consequences of complexity within biological networks: robustness and health, or vulnerability and disease
    • K.M. Dipple J.K. Phelan E.R.B. McCabe Consequences of complexity within biological networks: robustness and health, or vulnerability and disease Mol. Genet. Metab. 74 2001 45 50
    • (2001) Mol. Genet. Metab. , vol.74 , pp. 45-50
    • Dipple, K.M.1    Phelan, J.K.2    McCabe, E.R.B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.