article_metadata: Giuseppe Cammarata Pasquale Fatuzzo Margherita Stefania Rodolico Paolo Colomba Luigi Sicurella Francesco Iemolo Carmela Zizzo Riccardo Alessandro Caterina Bartolotta Giovanni Duro Ines Monte
article_metadata: 10.1155/2015/504784
article_metadata: Biomed Res Int
article_metadata: 2015;2015:504784.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/25977923/
article_metadata: Fabry Disease / genetics Family
article_metadata: Fabry Disease / genetics Family Case Reports Adult Base Sequence DNA Mutational Analysis Fabry Disease / enzymology Female Humans Italy Male Middle Aged Molecular Sequence Data Pedigree Young Adult alpha-Galactosidase / genetics alpha-Galactosidase
article_metadata: PMC4421032
article_metadata: 25977923
article_metadata: High variability of Fabry disease manifestations in an extended Italian family
article_metadata: 2015