Mutation analysis and X-inactivation studies in the galactosidase A gene

Donato Rigante, Roberta Ricci, A Morrone, C Cavicchi, T Bardelli, D Antuzzi, R Parini, M Di Rocco, S Feriozzi, O Gabrielli, R Barone, M Aricò, E. Zammarchi

Risultato della ricerca: Contributo in rivistaArticolo in rivista

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 originaleEnglish
pagine (da-a)421-421
Numero di pagine1
RivistaAmerican Journal of Human Genetics
Volume2002
Stato di pubblicazionePubblicato - 2002

Keywords

  • Fabry disease

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