Number of the records: 1
Sandhoffova choroba
Record number d012497 Date 06.06.2025 Type M - MESH Topical term Sandhoffova choroba Other term English (Pseudonym) Gangliosidosis G(M2), Type II
English (Pseudonym) G(M2) Gangliosidosis, Type II
English (Pseudonym) Hexosaminidase A and B Deficiency Disease
Slovak (Pseudonym) Sandhoffova choroba u dospelých
Slovak (Pseudonym) Sandhoffova choroba v dospelosti
Slovak (Pseudonym) Sandhoffov syndróm
Slovak (Pseudonym) gangliozidóza G(M2), typ II
Slovak (Pseudonym) gangliozidóza GM2, typ II
Slovak (Pseudonym) gangliozidóza GM2, typ 2
Slovak (Pseudonym) deficiencia hexozaminidáz A a B
Slovak (Pseudonym) choroba z deficiencie hexozaminidázy A a B
Slovak (Pseudonym) choroba z deficitu hexozaminidázy A a B
Slovak (Pseudonym) choroba z nedostatku hexozaminidázy A a B
Slovak (Pseudonym) Sandhoffova choroba u detí
Slovak (Pseudonym) Sandhoffova choroba v detstve
Slovak (Pseudonym) Sandhoffova choroba, infantilná forma
Slovak (Pseudonym) Sandhoffova choroba, juvenilná forma
Slovak (Pseudonym) Sandhoffova choroba, adultná forma
Slovak (Pseudonym) Sandhoffova-Jatzkewitzova-Pilzova choroba
Slovak (Pseudonym) deficiencia hexozaminidázy, totálna
Slovak (Pseudonym) deficit hexaminidázy, totálny
Slovak (Pseudonym) deficiencia beta-podjednotky beta-hexozaminidázy
Slovak (Pseudonym) deficiencia beta-subjednotky beta-hexozaminidázy
See also (Later heading) beta-N-acetylhexozaminidázy
(Later heading) G(M2) gangliozid
(Skutočné meno) beta-N-acetylhexozaminidázy
(Later heading) hexózaminidáza A
UDC 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 Note 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. 
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Number of the records: 1