title: Chromatofocusing coupled with automated assay for beta-hexosaminidase isoenzymes in GM2 gangliosidosis.
abstract: Good separations of the two major beta-hexosaminidase forms from human leukocytes were achieved by chromatofocusing, a technique which separates proteins on the basis of their isoelectric points. The use of an automated and reliable method is described for the identification of homozygotes and carriers of the GM2 gangliosidosis.
authors.forename: A
authors.initials: A
authors.lastname: Orlacchio
authors.forename: C
authors.initials: C
authors.lastname: Maffei
authors.forename: C
authors.initials: C
authors.lastname: Emiliani
authors.forename: G V
authors.initials: GV
authors.lastname: Coppa
authors.forename: L
authors.initials: L
authors.lastname: Felici
mesh_terms: D002852:Chromatography, Ion Exchange; D006579:Heterozygote; D006596:Hexosaminidases / Q000097:blood*; D006720:Homozygote; D006801:Humans; D007527:Isoenzymes / Q000097:blood*; D007962:Leukocytes / Q000201:enzymology*; D012497:Sandhoff Disease / Q000201:enzymology*; D013661:Tay-Sachs Disease / Q000201:enzymology*; D001619:beta-N-Acetylhexosaminidases
chemical_list: D007527:Isoenzymes; D006596:Hexosaminidases; D001619:beta-N-Acetylhexosaminidases