Higher frequency of the galactose-1-phosphate uridyl transferase gene K285N mutation in the Slovenian population

Large-scale molecular screening for galactosemia alleles in a pan-ethnic population

Makoto Suzuki, Carol West, Ernest Beutler · Human Genetics · 2001 · 81 citations

Life Sciences, Genetics, Molecular Genetics +16

Molecular heterogeneity of classical and duarte galactosemia: Mutation analysis by denaturing gradient gel electrophoresis

Susanne Greber‐Platzer, Per Guldberg, S Scheibenreiter et al. · Human Mutation · 1997 · 52 citations

Life Sciences, Genetics, Molecular Genetics +16

The molecular basis of transferase galactosaemia in South African negroids

Nayna Manga, T Jenkins, H Jackson et al. · Journal of Inherited Metabolic Disease · 1999 · 32 citations

Life Sciences, Biochemistry, Molecular Biology +10

Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: Identification of six novel mutations, including a stop codon mutation (X380R)

Libor Koz�k, Hana Francov�, Lenka Fajkusov� et al. · Human Mutation · 2000 · 31 citations

Life Sciences, Genetics, Molecular Genetics +16

Mutations in galactose‐1‐phosphate uridyltransferase gene in patients with idiopathic presenile cataract

Lidija Gobec, Vladimir Pfeifer, Barbara Mlinar et al. · Journal of Inherited Metabolic Disease · 2003 · 26 citations

Medicine, Genetics, Molecular Genetics +9