메뉴 건너뛰기




Volumn 156, Issue 13, 1997, Pages

Quantitative assessment of whole body galactose metabolism in galactosemic patients

Author keywords

Breath test; Endogenous galactose synthesis; Galactosemia; GALT genotype; 13C galactose (stable isotope)

Indexed keywords


EID: 25444507477     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/pl00014271     Document Type: Article
Times cited : (5)

References (27)
  • 1
    • 0000814750 scopus 로고
    • Galactosemia: Symptomatic and asymptomatic homozygotes in one Negro sibship
    • Baker L, Mellman WJ, Tedesco TA, Segal S (1966) Galactosemia: symptomatic and asymptomatic homozygotes in one Negro sibship. J Pediatr 68:551-558
    • (1966) J Pediatr , vol.68 , pp. 551-558
    • Baker, L.1    Mellman, W.J.2    Tedesco, T.A.3    Segal, S.4
  • 2
    • 24044534962 scopus 로고
    • Clinical and biochemical study in 69 cases of classical galactosemia from the Netherlands
    • Bakker HD, Boelen CCA (1993) Clinical and biochemical study in 69 cases of classical galactosemia from the Netherlands. Int Pediatr 8:135-136
    • (1993) Int Pediatr , vol.8 , pp. 135-136
    • Bakker, H.D.1    Boelen, C.C.A.2
  • 3
    • 0029116445 scopus 로고
    • The role of polyols in the pathophysiology of galactosemia
    • Berry GT (1995) The role of polyols in the pathophysiology of galactosemia. Eur J Pediatr 154:853-864
    • (1995) Eur J Pediatr , vol.154 , pp. 853-864
    • Berry, G.T.1
  • 5
    • 0028879596 scopus 로고
    • Endogenous synthesis of galactose in normal man and patients with hereditary galactosemia
    • Berry GT, Nissim I, Lin Z, Mazur AT, Gibson JB, Segal S (1995) Endogenous synthesis of galactose in normal man and patients with hereditary galactosemia. Lancet 346:1073-1074
    • (1995) Lancet , vol.346 , pp. 1073-1074
    • Berry, G.T.1    Nissim, I.2    Lin, Z.3    Mazur, A.T.4    Gibson, J.B.5    Segal, S.6
  • 7
    • 50549217518 scopus 로고
    • A new genetic abnormality resulting in galactose-1-phosphate uridyltransferase deficiency
    • Beutler E, Baluda MC, Sturgeon P, Day RW (1965) A new genetic abnormality resulting in galactose-1-phosphate uridyltransferase deficiency. Lancet I: 353
    • (1965) Lancet , vol.1 , pp. 353
    • Beutler, E.1    Baluda, M.C.2    Sturgeon, P.3    Day, R.W.4
  • 8
    • 0022903474 scopus 로고
    • Progressive cerebellar and extrapyramidal motor disturbances in galactosaemic twins
    • Bohles H, Wenzel D, Shin YL (1986) Progressive cerebellar and extrapyramidal motor disturbances in galactosaemic twins. Eur J Pediatr 145:413-417
    • (1986) Eur J Pediatr , vol.145 , pp. 413-417
    • Bohles, H.1    Wenzel, D.2    Shin, Y.L.3
  • 9
    • 0014031188 scopus 로고
    • Galactose conversion to D-xylulose: An alternate route of galactose metabolism
    • Cuatrecasas P, Segal S (1966) Galactose conversion to D-xylulose: an alternate route of galactose metabolism. Science 153: 549-551
    • (1966) Science , vol.153 , pp. 549-551
    • Cuatrecasas, P.1    Segal, S.2
  • 10
    • 8944256349 scopus 로고
    • New methods for calculating metabolic rate with special reference to protein metabolism
    • DeV Weir JB (1949) New methods for calculating metabolic rate with special reference to protein metabolism. J Physiol 109: 1-9
    • (1949) J Physiol , vol.109 , pp. 1-9
    • DeV Weir, J.B.1
  • 13
    • 0018918651 scopus 로고
    • Development aspects of galactosemia from infancy to childhood
    • Fishler K, Koch R, Donnell GN, Wenz E (1980) Development aspects of galactosemia from infancy to childhood. Clin Pediatr 19:38-44
    • (1980) Clin Pediatr , vol.19 , pp. 38-44
    • Fishler, K.1    Koch, R.2    Donnell, G.N.3    Wenz, E.4
  • 14
    • 0023940228 scopus 로고
    • Composition of milk produced by a mother with galactosemia
    • Forbes GB, Barton LD, Nicholas DL, Cook DA (1988) Composition of milk produced by a mother with galactosemia. J Pediatr 113:90-91
    • (1988) J Pediatr , vol.113 , pp. 90-91
    • Forbes, G.B.1    Barton, L.D.2    Nicholas, D.L.3    Cook, D.A.4
  • 15
    • 0027398293 scopus 로고
    • A yeast expression system for human galactose-1-phosphate uridyltransferase
    • Fridovich-Kiel JL, Jinks-Robertson S (1993) A yeast expression system for human galactose-1-phosphate uridyltransferase. Proc Natl Acad Sci USA 90:398-402
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 398-402
    • Fridovich-Kiel, J.L.1    Jinks-Robertson, S.2
  • 16
    • 0024551084 scopus 로고
    • Late onset of distinct neurologic syndromes in galactosemic siblings
    • Friedman JH, Levy HL, Boustany RM (1989) Late onset of distinct neurologic syndromes in galactosemic siblings. Neurology 39:741-742
    • (1989) Neurology , vol.39 , pp. 741-742
    • Friedman, J.H.1    Levy, H.L.2    Boustany, R.M.3
  • 17
    • 0014541591 scopus 로고
    • 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
  • 18
    • 0016276178 scopus 로고
    • 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
  • 19
    • 0021127337 scopus 로고
    • Galactosemia: How does long-term treatment change the outcome?
    • Gitzelmann R, Steinmann B (1984) Galactosemia: how does long-term treatment change the outcome? Enzyme 32:37-46
    • (1984) Enzyme , vol.32 , pp. 37-46
    • Gitzelmann, R.1    Steinmann, B.2
  • 20
    • 0015580465 scopus 로고
    • Unusual late neurological sequelae in galactosaemia
    • Jan JE, Wilson RA (1973) Unusual late neurological sequelae in galactosaemia. Dev Med Child Neurol 15:72-74
    • (1973) Dev Med Child Neurol , vol.15 , pp. 72-74
    • Jan, J.E.1    Wilson, R.A.2
  • 22
    • 0028881501 scopus 로고
    • Abnormal somatosensory evoked potentials in patients with classic galactosemia: Correlation with neurologic outcome
    • Kaufman FR, Horton EJ, Gott P, Wolff JA, Nelson MD, Azen C, Manis FR (1995) Abnormal somatosensory evoked potentials in patients with classic galactosemia: correlation with neurologic outcome. J Child Neurol 10:32-36
    • (1995) J Child Neurol , vol.10 , pp. 32-36
    • Kaufman, F.R.1    Horton, E.J.2    Gott, P.3    Wolff, J.A.4    Nelson, M.D.5    Azen, C.6    Manis, F.R.7
  • 23
    • 0020405880 scopus 로고
    • Galactosaemia-thirty years on. the experience of a generation
    • Komrower GM (1982) Galactosaemia-thirty years on. The experience of a generation. J Inherited Metab Dis 5:96-104
    • (1982) J Inherited Metab Dis , vol.5 , pp. 96-104
    • Komrower, G.M.1
  • 26
    • 0027957625 scopus 로고
    • On the molecular nature of the Duarte variant of galactose-1-phosphate uridyltransferase (GALT)
    • Lin HC, Kirby LT, Ng WG, Reichardt JKV (1994) On the molecular nature of the Duarte variant of galactose-1-phosphate uridyltransferase (GALT). Hum Genet 93:167-169
    • (1994) Hum Genet , vol.93 , pp. 167-169
    • Lin, H.C.1    Kirby, L.T.2    Ng, W.G.3    Reichardt, J.K.V.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.