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Investigation of the frequency of heterozygotes for galactose-1-phosphate-uridyl-transerase-deficiency (galactosemia) in the Vienna area. Comparison with the frequency of homozygotes found by newborn screening. Scheibenreiter S, Scheiber V, Kiefer A. padiatr Padil 1976;11(1):305-12
Langzeitergebnisse von Kindern mit klassischer Galaktosämie. Scheibentreiter S, Knoll E, Widhalm K. Wiener klinische Wochenschrift, 1992 Molecular heterogeneity of Classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electroporesis. Greber-Platzer S, Guldberg P, Scheibenreiter S, Iten C, Schuller E, Patel N, Strobl W. Human Mutation 1997;10(1):49-57 |
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In vivo and in vitro expression of rat galactose-1-phosphate uridyltransferase (GALT) in the developing central and periphal nervous system. Daude N, Ellie E, Reichardt J, Petry K. Elsevier Trends Journals, Developmental Brain Research, 1996
Altered Follicle Stimulating Hormone Isoforms in Female Galactosaemia Patients. Prestoz L, Couto A, Shin Y, Petry K. Springer-Verlag, 1997 The fundamental importance of human galactose metabolism: lessons from genetics and biochemistry. Petry K, Reichardt J. Elsevier Trends Journals, Trends in Genetics, 1998 Pregnany and Delivery After Stimulation with rFSH of a Galactosemia Patient Suffering Hypergonadotropic Hypogonadism: Case Report. Yves Menezo, JR, Maryse Lescaille, Bernard Nicollet and Edouard J. Servy, 2004 |
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Long-term outcome in 134 patients with galactosaemia. Schweitzer S, Shin Y, Jakobs C and Brodehl J. Eur J Pediatr 1993 Jan;152(1):36-43 | ||
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Galactosaemia - A controversial Disorder, screening + Outcome, Ireland 1972 to 1992. Badaw N, Cahalane S, Mc. Donald M, Mulhare P, Bebi B, O Donoghue A, Naughten E
Opthalmic Findings in Classical Galactosaemia - A Screened Population. Burke J, O Keeffe M, Bowell R, Naughten E Opthalmic Findings in Classical Galactosaemia - Prospective Study. s: Beigi B, O Keeffe M, Bowell R, Naughten E, Badawi N, Lanigan B |
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Uridine diphosphate galactose 4'-epimerase deficiency.IV. Report of eight cases in three families. Gitzelmann R, Steinmann B, Mitchell B, Haigis E. Helv Paediatr Acta 1977 Apr; 31(6):441-52 | ||
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Last updated:
07.06.2007
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