Tay-Sachs disease
Từ liên quan
lysosomeenzymehexosaminidaselipidgangliosidemutationgeneautosomalrecessivegeneticshereditaryneurologicalneurodegenerationbrainneuroncentral nervous systemmetabolismstorageaccumulationlipidosissphingolipidosisinfantilejuvenileadultonsetatrophyseizureconvulsionhypotoniaparalysisblindnessretinamaculaophthalmologyneuropathycognitivedevelopmentaldelayregressionlethalitymortalitycarrierscreeningprenataldiagnosisbiopsyblood testchromosomeallelehomozygousheterozygouspopulationepidemiologypedigreeinheritanceproteincatalystsubstratedeficiencypathologysymptomprognosispalliativecaredisordersyndrome