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gangliozidózy

Č. záznamu	d005733
Dátum	06.06.2025
Typ	M - MESH
Tematický termín	gangliozidózy
Pozri tiež	(Novšie záhlavie) galaktozidázy (Skutočné meno) mukolipidózy (Novšie záhlavie) hexozaminidázy (Novšie záhlavie) mukolipidózy
MDT	C10.228.140.163.100.435.825.300C16.320.565.189.435.825.300C16.320.565.398.641.803.350C16.320.565.595.554.825.300C18.452.132.100.435.825.300C18.452.584.563.641.803.350C18.452.648.189.435.825.300C18.452.648.398.641.803.350C18.452.648.595.554.825.300
Poznámka	A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDES. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the LYSOSOMES. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.

predmetové heslo

Počet záznamov: 1