Martin Hřebı́ček

Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis

Timothy M. Cox, Robin Lachmann, C. E. Hollak et al. · The Lancet · 2000 · 740 citations

Ogt 918, Biosynthesis, Medicine +4

Chitotriosidase, a chitinase, and the 39‐kDa human cartilage glycoprotein, a chitin‐binding lectin, are homologues of family 18 glycosyl hydrolases secreted by human macrophages

G. Herma Renkema, Rolf G. Boot, Fung Lin Au et al. · European Journal of Biochemistry · 1998 · 400 citations · Full text

Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver

Evita van de Steeg, Viktor Stránecký, Hana Hartmannová et al. · Journal of Clinical Investigation · 2012 · 379 citations · Full text

Drug Conjugates, Genetics, Human Rotor Syndrome +25

Clinical and Biochemical Phenotype in 11 Patients With Mevalonic Aciduria

G.F. Hoffmann, C. Charpentier, Ertan Mayatepek et al. · PEDIATRICS · 1993 · 290 citations

Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population

Robert Dobrovolný, Lenka Dvořáková, J. Ledvinová et al. · Journal of Molecular Medicine · 2005 · 168 citations

Biology, Mendelian Disorder, Genetic Disorder +7