title: Biochemical characterization of beta-hexosaminidase in different biological specimens from eleven patients with GM2-gangliosidosis B1 variant.
abstract: GM2-gangliosidosis B1 variant is thought to be a rare disorder with a wide geographical and ethnic distribution. We report the biochemical findings obtained in different specimens from a group of 11 B1 variant patients originating from the north of Portugal. The biochemical data obtained seem to indicate that only one of these patients is a genetic compound presenting a clinical and biochemical pattern similar to the majority of B1 variant patients described in the literature, but somewhat different from the profile presented by the other patients reported here, who are homozygous for the 'DN-allele'.
authors.affiliation: Instituto de Genética Médica Jacinto de Magalhães, Porto, Portugal.
authors.forename: M G
authors.initials: MG
authors.lastname: Ribeiro
authors.forename: R A
authors.initials: RA
authors.lastname: Pinto
authors.forename: M R
authors.initials: MR
authors.lastname: Dos Santos
authors.forename: M
authors.initials: M
authors.lastname: Maia
authors.forename: M C
authors.initials: MC
authors.lastname: Sá Miranda
mesh_terms: D000117:Acetylglucosamine / Q000031:analogs & derivatives / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D004588:Electrophoresis, Cellulose Acetate; D005347:Fibroblasts / Q000201:enzymology; D005678:G(M2) Ganglioside; D005733:Gangliosidoses / Q000201:enzymology* / Q000235:genetics; D014644:Genetic Variation; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006923:Hymecromone / Q000031:analogs & derivatives / Q000378:metabolism; D007962:Leukocytes / Q000201:enzymology; D008214:Lymphocytes / Q000201:enzymology; D011174:Portugal; D001619:beta-N-Acetylhexosaminidases / Q000378:metabolism*
chemical_list: D005678:G(M2) Ganglioside; C025158:4-methylumbelliferyl 2-acetamido-2-deoxy-beta-D-glucopyranoside; D006923:Hymecromone; D001619:beta-N-Acetylhexosaminidases; D000117:Acetylglucosamine