title: Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers.
authors.affiliation: Department of Paediatrics, Florence, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Morrone
authors.forename: C
authors.initials: C
authors.lastname: Cavicchi
authors.forename: T
authors.initials: T
authors.lastname: Bardelli
authors.forename: D
authors.initials: D
authors.lastname: Antuzzi
authors.forename: R
authors.initials: R
authors.lastname: Parini
authors.forename: M
authors.initials: M
authors.lastname: Di Rocco
authors.forename: S
authors.initials: S
authors.lastname: Feriozzi
authors.forename: O
authors.initials: O
authors.lastname: Gabrielli
authors.forename: R
authors.initials: R
authors.lastname: Barone
authors.forename: G
authors.initials: G
authors.lastname: Pistone
authors.forename: C
authors.initials: C
authors.lastname: Spisni
authors.forename: R
authors.initials: R
authors.lastname: Ricci
authors.forename: E
authors.initials: E
authors.lastname: Zammarchi
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D004303:Dosage Compensation, Genetic; D000795:Fabry Disease / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D020868:Gene Silencing; D006580:Genetic Carrier Screening; D006801:Humans; D008297:Male; D010375:Pedigree; D000519:alpha-Galactosidase / Q000235:genetics
chemical_list: D000519:alpha-Galactosidase