Fabry disease in an X-linked disorder characterized by the abnormal accumulation of a neutral glycolipid, trihexosylceramide, and its clinical manifestations are protean. The deficient enzyme is the one which cleaves the glycosidic bond between the terminal and pre-terminal galactose residues of trihexosylceramide. We report on the alpha-galactosidase assay and X-inactivation studies in patients with a suspected Fabry disease.
Morrone, A., Cavicchi, C., Bardelli, T., Antuzzi, D., Rigante, D., Parini, R., Di Rocco, M., Feriozzi, S., Gabrielli, O., Barone, R., Aricò, M., Ricci, R., Zammarchi, E., Mutation analysis and X-inactivation studies in the galactosidase A gene, <<AMERICAN JOURNAL OF HUMAN GENETICS>>, 2002; 2002 (71(4)): 421-421 [http://hdl.handle.net/10807/90842]
Autori: | |
Titolo: | Mutation analysis and X-inactivation studies in the galactosidase A gene |
Data di pubblicazione: | 2002 |
Abstract: | Fabry disease in an X-linked disorder characterized by the abnormal accumulation of a neutral glycolipid, trihexosylceramide, and its clinical manifestations are protean. The deficient enzyme is the one which cleaves the glycosidic bond between the terminal and pre-terminal galactose residues of trihexosylceramide. We report on the alpha-galactosidase assay and X-inactivation studies in patients with a suspected Fabry disease. |
Lingua: | Inglese |
Rivista: | |
Citazione: | Morrone, A., Cavicchi, C., Bardelli, T., Antuzzi, D., Rigante, D., Parini, R., Di Rocco, M., Feriozzi, S., Gabrielli, O., Barone, R., Aricò, M., Ricci, R., Zammarchi, E., Mutation analysis and X-inactivation studies in the galactosidase A gene, <<AMERICAN JOURNAL OF HUMAN GENETICS>>, 2002; 2002 (71(4)): 421-421 [http://hdl.handle.net/10807/90842] |
Appare nelle tipologie: | Articolo in rivista, Nota a sentenza |