Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease? - Duro, Giovanni; Zizzo, Carmela; Cammarata, Giuseppe; Burlina, Alessandro; Burlina, Alberto; Polo, Giulia; Scalia, Simone; Oliveri, Roberta; Sciarrino, Serafina; Francofonte, Daniele; Alessandro, Riccardo; Pisani, Antonio; et al. (International journal of molecular sciences, 2018)
Keywords: Adolescent; Adult; Aged; Aged, 80 and over; Alleles; alpha-Galactosidase - genetics; Amino Acid Substitution; Biomarkers; Child; Child, Preschool; Disease; Enzymes; Fabry Disease - genetics; Female; Females; Gene expression; Genotype; Genotype & phenotype; Glycolipids - genetics; Humans; Hypotheses; Infant; Infant, Newborn; Male; Males; Metabolic disorders; Middle Aged; Mutation; Nervous system; Pathology; Patients; Pediatrics; Phenotype; Sphingolipids - genetics; Young Adult; Fabry disease; GLA gene; LysoGb3