Počet záznamov: 1
hexózaminidáza A
Č. záznamu d054818 Dátum 06.06.2025 Typ M - MESH Tematický termín hexózaminidáza A Iný termín Angličtina (Pseudonym) Hex A
Slovenčina (Pseudonym) Hex A
Pozri tiež (Skutočné meno) Sandhoffova choroba
(Skutočné meno) Tay-Sachsova choroba
MDT D08.811.277.450.483.180.750 Poznámka A mammalian beta-hexosaminidase isoform that is a heteromeric protein comprized of both hexosaminidase alpha and hexosaminidase beta subunits. Deficiency of hexosaminidase A due to mutations in the gene encoding the hexosaminidase alpha subunit is a case of TAY-SACHS DISEASE. Deficiency of hexosaminidase A and HEXOSAMINIDASE B due to mutations in the gene encoding the hexosaminidase beta subunit is a case of SANDHOFF DISEASE. 
predmetové heslo
Počet záznamov: 1