B. Radeva

Mutation analyses in 17 patients with deficiency in acid β-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B

Eduard Paschke, Ivica Milos, Heidemarie Kreimer-Erlacher et al. · Human Genetics · 2001 · 60 citations

Life Sciences, Genetics, Molecular Genetics +10

GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid β-galactosidase

Doris Hofer, Karl Paul, Katrin Fantur et al. · Human Mutation · 2009 · 53 citations

Life Sciences, Genetics, Molecular Genetics +13

Recurrent nonsense mutation in exon 7 of the phenylalanine hydroxylase gene

Bernd Dworniczak, Luba Kalaydjieva, C. Aulehla‐Scholz et al. · Human Genetics · 1991 · 17 citations

Life Sciences, Genetics, Molecular Genetics +7

Clinical and molecular studies of EXT1/EXT2 in Bulgaria

Malina Kirilova Stancheva‐Ivanova, Wim Wuyts, Els Van Hul et al. · Journal of Inherited Metabolic Disease · 2011 · 10 citations

Medicine, Molecular Biology, Molecular Genetics +2