Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?

6533b854fe1ef96bd12ae165

RESEARCH PRODUCT

Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?

Maria Angela Losi Riccardo Alessandro Maurizio Postorino Federico Pieruzzi Paolo Colomba Sandro Feriozzi Yuri Battaglia Andrea Frustaci Alessandra Testa Ines Monte Daniele Masarone Serafina Sciarrino Antonello Giordano Antonio Pisani Cinzia Castana Carmine Zoccali Elisabetta Zachara Giuseppe Limongelli Eleonora Riccio Luisa Amico Claudio Ferri Alessandro P. Burlina Renzo Mignani Margherita Stefania Rodolico Rosa Napoletano Marina Caserta Carmela Zizzo Simone Scalia Marco Spada Roberta Oliveri Giuseppe Cammarata Marco Lombardi Cristina Chimenti Daniele Francofonte Giovanni Duro Maurizio Tenuta Giuseppe Palladino Alberto Burlina Camillo Autore Giulia Polo Maurizio Pieroni

subject

0301 basic medicine Proband Male Disease medicine.disease_cause Sphingolipid Catalysi lcsh:Chemistry 0302 clinical medicine Gla gene Fabry disease; GLA gene; LysoGb3 Medicine Child lcsh:QH301-705.5 Spectroscopy chemistry.chemical_classification Genetics Allele Aged 80 and over Mutation Computer Science Applications1707 Computer Vision and Pattern Recognition General Medicine Middle Aged Phenotype 3. Good health Computer Science Applications Phenotype Child Preschool Female Human Adult Adolescent Genotype Glycolipid Catalysis Article Inorganic Chemistry 03 medical and health sciences Young Adult otorhinolaryngologic diseases Humans Physical and Theoretical Chemistry Molecular Biology Gene GLA gene Alleles Aged Fabry disease Sphingolipids business.industry Organic Chemistry Infant Newborn LysoGb3 Infant Biomarker Fabry disease; gla gene; lysogb3; adolescent; adult; aged; aged 80 and over; alleles; amino acid substitution; biomarkers; child; child preschool; fabry disease; female; genotype; glycolipids; humans; infant; infant newborn; male; middle aged; phenotype; sphingolipids; young adult; alpha-galactosidase; mutation medicine.disease Fabry disease 030104 developmental biology Enzyme chemistry lcsh:Biology (General)lcsh:QD1-999 Amino Acid Substitution alpha-Galactosidase Mutation Glycolipids business 030217 neurology & neurosurgery Biomarkers

description

Anderson-Fabry disease (FD) is a rare, progressive, multisystem storage disorder caused by the partial or total deficit of the lysosomal enzyme &alpha

year	journal	country	edition	language
2018-11-01	International Journal of Molecular Sciences

10.3390/ijms19123726 http://europepmc.org/articles/PMC6320967

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