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Volumn 274, Issue 1, 1998, Pages 71-87

Newborn screening for galactosemia: Ultramicro assay for galactose-1-phosphate-uridyltransferase activity

Author keywords

Fluorimetry; Galactosemia; GALT; Newborn screening

Indexed keywords

GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE;

EID: 17644445001     PISSN: 00098981     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0009-8981(98)00052-7     Document Type: Article
Times cited : (18)

References (19)
  • 1
    • 0028786309 scopus 로고
    • Characterization of two stop codon mutations in the galactose-1-phosphate uridyltransferase gene of three male galactosemic patients with severe clinical manifestation
    • [1] Gathof BS, Sommer M, Podskarbi T et al. Characterization of two stop codon mutations in the galactose-1-phosphate uridyltransferase gene of three male galactosemic patients with severe clinical manifestation. Hum Genet 1995;96:721-5.
    • (1995) Hum Genet , vol.96 , pp. 721-725
    • Gathof, B.S.1    Sommer, M.2    Podskarbi, T.3
  • 2
    • 0029984640 scopus 로고    scopus 로고
    • Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosemia
    • [2] Shin YS, Gathof BS, Podskarbi T, Sommer M, Giugliani R, Gresser U. Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosemia. Eur J Pediatr 1996;155:393-7.
    • (1996) Eur J Pediatr , vol.155 , pp. 393-397
    • Shin, Y.S.1    Gathof, B.S.2    Podskarbi, T.3    Sommer, M.4    Giugliani, R.5    Gresser, U.6
  • 4
    • 0027023314 scopus 로고
    • Genetic basis of Galactosemia
    • [4] Reichardt JKV. Genetic Basis of Galactosemia. Hum Mutation 1992;1:190-6.
    • (1992) Hum Mutation , vol.1 , pp. 190-196
    • Reichardt, J.K.V.1
  • 5
    • 0024454454 scopus 로고
    • Microassay for screening newborns for galactosemia with use of a microplate reader
    • [5] Yamaguchi A, Fukushi M, Mizushima Y et al. Microassay for screening newborns for galactosemia with use of a microplate reader. Clin Chem 1989;35:1962-4.
    • (1989) Clin Chem , vol.35 , pp. 1962-1964
    • Yamaguchi, A.1    Fukushi, M.2    Mizushima, Y.3
  • 6
    • 0019843405 scopus 로고
    • Microdetermination of galactose and galactose 1-phosphate in dried blood spots
    • [6] Fujimura Y, Ishi S, Kawamura M, Naruse H. Microdetermination of galactose and galactose 1-phosphate in dried blood spots. Anal Biochem 1981;117:187-95.
    • (1981) Anal Biochem , vol.117 , pp. 187-195
    • Fujimura, Y.1    Ishi, S.2    Kawamura, M.3    Naruse, H.4
  • 7
    • 0026508856 scopus 로고
    • Colorimetric determination of galactose and galactose-1-phospate from dried blood
    • [7] Diepenbrock F, Heckler R, Schickling H et al. Colorimetric determination of galactose and galactose-1-phospate from dried blood. Clin Biochem 1992;25:37-9.
    • (1992) Clin Biochem , vol.25 , pp. 37-39
    • Diepenbrock, F.1    Heckler, R.2    Schickling, H.3
  • 8
    • 0029125073 scopus 로고
    • Newborn mass screening for galactosemia
    • [8] Schweitzer S. Newborn mass screening for galactosemia. Eur J Pediatr 1995;154(Suppl. 2):S37-9.
    • (1995) Eur J Pediatr , vol.154 , Issue.SUPPL. 2
    • Schweitzer, S.1
  • 9
    • 0013930049 scopus 로고
    • A simple spot screening test for galactosemia
    • [9] Beutler E, Baluda MC. A simple spot screening test for galactosemia. J Lab Clin Med 1966;68:137-41.
    • (1966) J Lab Clin Med , vol.68 , pp. 137-141
    • Beutler, E.1    Baluda, M.C.2
  • 10
    • 0017663067 scopus 로고
    • Screening auf Galactose-1-phosphate-uridyl-transferase-Mangel (klassische Galaktosämie) bei Neugeborenen
    • [10] Ahlberendt I, Wagenknecht C. Screening auf Galactose-1-phosphate-uridyl-transferase-Mangel (klassische Galaktosämie) bei Neugeborenen. Acta Biol Med (Germany) 1977;36:797-800.
    • (1977) Acta Biol Med (Germany) , vol.36 , pp. 797-800
    • Ahlberendt, I.1    Wagenknecht, C.2
  • 11
    • 0014592244 scopus 로고
    • Fluorometric screening procedure for galactosemia utilizing the autoanalyzer
    • [11] Hochella NJ, Hill JB. Fluorometric screening procedure for galactosemia utilizing the autoanalyzer. Clin Chem 1969;15:949-60.
    • (1969) Clin Chem , vol.15 , pp. 949-960
    • Hochella, N.J.1    Hill, J.B.2
  • 12
    • 0010341761 scopus 로고    scopus 로고
    • International application published under the patent cooperation treaty, International Publication number WO 95/33072
    • [12] Isolab Inc. Assay for enzyme activity using a microfluorometric assay. International application published under the patent cooperation treaty, International Publication number WO 95/33072.
    • Assay for Enzyme Activity Using A Microfluorometric Assay
  • 13
    • 0010341762 scopus 로고    scopus 로고
    • Mikrotiterplatte. German application filed 1997
    • 119.2
    • [13] Rhode H, Horn A, Scharff M, Wölfel H. Mikrotiterplatte. German application filed 1997, Aktenzeichen 197 39 119.2.
    • Aktenzeichen , vol.197 , pp. 39
    • Rhode, H.1    Horn, A.2    Scharff, M.3    Wölfel, H.4
  • 14
    • 0027073065 scopus 로고
    • Minimizing false positive diagnosis in newborn screening for galactosemia
    • [14] Frazier DM, Clemonds EH, Kirkman HN. Minimizing false positive diagnosis in newborn screening for galactosemia. Biochem Med Metabol Biol 1992;48:199-211.
    • (1992) Biochem Med Metabol Biol , vol.48 , pp. 199-211
    • Frazier, D.M.1    Clemonds, E.H.2    Kirkman, H.N.3
  • 15
    • 0026448555 scopus 로고
    • Kinetic fluorometric micromethod for screening of newborns for galactosemia - A way to improve assay specificity
    • [15] Tuuminen T, Akerlind G. Kinetic fluorometric micromethod for screening of newborns for galactosemia - a way to improve assay specificity. Clin Chim Acta 1992;212:155-8.
    • (1992) Clin Chim Acta , vol.212 , pp. 155-158
    • Tuuminen, T.1    Akerlind, G.2
  • 17
    • 0027981469 scopus 로고
    • Reference values and hematologic changes from birth to five years in patients with sickle cell disease: Cooperative study of sickle cell disease
    • [17] Brown AK, Sleeper LA, Miller ST, Pegelow CH, Gill FM, Waclawiw MA. Reference values and hematologic changes from birth to five years in patients with sickle cell disease: cooperative study of sickle cell disease. Arch Pediatr Adolesc Med 1994;148:796-804.
    • (1994) Arch Pediatr Adolesc Med , vol.148 , pp. 796-804
    • Brown, A.K.1    Sleeper, L.A.2    Miller, S.T.3    Pegelow, Ch.4    Gill, F.M.5    Waclawiw, M.A.6
  • 19


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.