Počet záznamov: 1
Tay-Sachsova choroba
Č. záznamu d013661 Dátum 06.06.2025 Typ M - MESH Tematický termín Tay-Sachsova choroba Iný termín Angličtina (Pseudonym) Gangliosidosis GM2, B Variant
Angličtina (Pseudonym) Gangliosidosis G(M2), Type I
Angličtina (Pseudonym) G(M2) Gangliosidosis, Type I
Angličtina (Pseudonym) Hexosaminidase A Deficiency Disease
Angličtina (Pseudonym) Tay-Sachs Disease, B Variant
Slovenčina (Pseudonym) idiocia amaurotická familiárna
Slovenčina (Pseudonym) gangliozidóza G(M2), typ I
Slovenčina (Pseudonym) gangliozidóza GM2, typ 1
Slovenčina (Pseudonym) gangliozidóza GM2, variant B
Slovenčina (Pseudonym) GM2-gangliozidóza, variant B
Slovenčina (Pseudonym) choroba z deficitu hexozaminidázy A
Slovenčina (Pseudonym) choroba z deficiencie hexozaminidázy A
Slovenčina (Pseudonym) deficiencia HexA
Slovenčina (Pseudonym) deficit HexA
Slovenčina (Pseudonym) Tayova-Sachsova choroba, variant B
Slovenčina (Pseudonym) deficit hexozaminidázy A
Slovenčina (Pseudonym) deficiencia hexozaminidázy A
Slovenčina (Pseudonym) nedostatok hexozaminidázy A
Slovenčina (Pseudonym) deficit alfa-podjednotky hexozaminidázy
Slovenčina (Pseudonym) deficit alfa-subjednotky hexozaminidázy
Slovenčina (Pseudonym) deficiencia alfa-podjednotky hexozaminidázy
Slovenčina (Pseudonym) deficiencia alfa-subjednotky hexozaminidázy
Slovenčina (Pseudonym) Tay-Sachsova sfingolipidóza
Slovenčina (Pseudonym) Tay-Sachsova choroba, B-variant
Slovenčina (Pseudonym) Tayova-Sachsova choroba
Pozri tiež (Novšie záhlavie) beta-N-acetylhexozaminidázy
(Novšie záhlavie) G(M2) gangliozid
(Skutočné meno) beta-N-acetylhexozaminidázy
(Novšie záhlavie) hexózaminidáza A
MDT C10.228.140.163.100.435.825.300.300.500C16.320.565.189.435.825.300.300.500C16.320.565.398.641.803.350.300.850C16.320.565.595.554.825.300.300.840C18.452.132.100.435.825.300.300.500C18.452.584.563.641.803.350.300.850C18.452.648.189.435.825.300.300.500C18.452.648.398.641.803.350.300.850C18.452.648.595.554.825.300.300.840 Poznámka An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry. 
predmetové heslo
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