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]
Mutation analysis and X-inactivation studies in the galactosidase A gene
Rigante, Donato;Ricci, RobertaPenultimo
;
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.
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
