Early detection of lysosomal storage disorders

G - Physics – 01 – N

Patent

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Details

G01N 33/566 (2006.01) G01N 33/577 (2006.01) G01N 33/68 (2006.01) G01N 33/543 (2006.01)

Patent

CA 2253875

The present invention relates generally to lysosomal storage disorders and to diagnostic agents for their detection in humans and other animals. More particularly, the present invention is directed to the uses of the LSD markers Lamp-1, Lamp-2, Limp-II, 4-sulphatase, acid phosphatase (ACP), .beta.-hexosaminidase or .alpha.-mannosidase, amongst others as diagnotic agents for the detection of many lysosomal storage disorders.

La présente invention se rapporte de manière générale aux troubles de stockage des lysosomes et à des agents diagnostiques permettant de déceler ces troubles chez les humains ou chez les animaux. L'invention se rapporte plus particulièrement à des marqueurs de ces troubles de stockage des lysosomes que sont, entre autres, Lamp-1, Lamp-2, Limp-II, la 4-sulphatase, la phosphatase acide (ACP), la .beta.-hexosaminidase ou l'.alpha.-mannosidase, lesdits marqueurs étant utilisés en tant qu'agents diagnostiques pour le dépistage de nombreux troubles de stockage des lysosomes.

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