Fabry disease
Related Words
Fabry diseasestoragedisorderenzymedeficiencylipidaccumulationinheritancemutationgeneticshypohidrosiscorneanephropathyrenalfailurecardiomyopathyhypertrophyheartkidneystrokecerebrovascularneuropathypainburningskindermatologymetabolismbiochemicalsubstratechaperonepharmacologydiagnosisbiopsyscreeningbiomarkerplasmaurineproteinuriaproteinorgansystemicchronicrareorphandiseasepathologysymptommanifestationphenotypegenotypecarrierhemizygousheterozygouslysosomevacuolesphingolipidceramidecatabolismhydrolysismetaboliteclinicalprognosistreatmenttherapymanagementcomplicationmorbiditymortality