Počet záznamov: 1
Sandhoffova choroba
Č. záznamu d012497 Dátum 06.06.2025 Typ M - MESH Tematický termín Sandhoffova choroba Iný termín Angličtina (Pseudonym) Gangliosidosis G(M2), Type II
Angličtina (Pseudonym) G(M2) Gangliosidosis, Type II
Angličtina (Pseudonym) Hexosaminidase A and B Deficiency Disease
Slovenčina (Pseudonym) Sandhoffova choroba u dospelých
Slovenčina (Pseudonym) Sandhoffova choroba v dospelosti
Slovenčina (Pseudonym) Sandhoffov syndróm
Slovenčina (Pseudonym) gangliozidóza G(M2), typ II
Slovenčina (Pseudonym) gangliozidóza GM2, typ II
Slovenčina (Pseudonym) gangliozidóza GM2, typ 2
Slovenčina (Pseudonym) deficiencia hexozaminidáz A a B
Slovenčina (Pseudonym) choroba z deficiencie hexozaminidázy A a B
Slovenčina (Pseudonym) choroba z deficitu hexozaminidázy A a B
Slovenčina (Pseudonym) choroba z nedostatku hexozaminidázy A a B
Slovenčina (Pseudonym) Sandhoffova choroba u detí
Slovenčina (Pseudonym) Sandhoffova choroba v detstve
Slovenčina (Pseudonym) Sandhoffova choroba, infantilná forma
Slovenčina (Pseudonym) Sandhoffova choroba, juvenilná forma
Slovenčina (Pseudonym) Sandhoffova choroba, adultná forma
Slovenčina (Pseudonym) Sandhoffova-Jatzkewitzova-Pilzova choroba
Slovenčina (Pseudonym) deficiencia hexozaminidázy, totálna
Slovenčina (Pseudonym) deficit hexaminidázy, totálny
Slovenčina (Pseudonym) deficiencia beta-podjednotky beta-hexozaminidázy
Slovenčina (Pseudonym) deficiencia beta-subjednotky beta-hexozaminidázy
Pozri tiež (Novšie záhlavie) beta-N-acetylhexozaminidázy
(Novšie záhlavie) G(M2) gangliozid
(Skutočné meno) beta-N-acetylhexozaminidázy
(Novšie záhlavie) hexózaminidáza A
MDT C10.228.140.163.100.435.825.300.300.249C16.320.565.189.435.825.300.300.249C16.320.565.398.641.803.350.300.700C16.320.565.595.554.825.300.300.800C18.452.132.100.435.825.300.300.249C18.452.584.563.641.803.350.300.700C18.452.648.189.435.825.300.300.249C18.452.648.398.641.803.350.300.700C18.452.648.595.554.825.300.300.800 Poznámka An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE. 
predmetové heslo
Počet záznamov: 1