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Review 1. Are there useful biochemical markers of disease activity in lysosomal storage diseases?

Authors: B Winchester
Journal: J Inherit Metab Dis Date: 2001 Impact factor: 4.982

Review 2. Biochemistry and genetics of gangliosidoses.

Authors: K Sandhoff; H Christomanou
Journal: Hum Genet Date: 1979 Impact factor: 4.132

3. Purification of two hexosaminidases from human kidney.

Authors: D V Marinkovic; J N Marinkovic
Journal: Biochem J Date: 1977-04-01 Impact factor: 3.857

Review 4. Basic findings and current developments in sphingolipidoses.

Authors: H Pilz; R Heipertz; D Seidel
Journal: Hum Genet Date: 1979-03-12 Impact factor: 4.132

5. [Chance and discovery in research on the cause of infantile amaurotic idiocy].

Authors: H Jatzkewitz
Journal: Naturwissenschaften Date: 1981-05

6. Immunological properties of N-acetyl-beta-D-glucosaminidase of normal human liver and of GM2-gangliosidosis liver.

Authors: M Carroll; D Robinson
Journal: Biochem J Date: 1973-01 Impact factor: 3.857

7. Diagnosis of infantile and juvenile forms of GM2 gangliosidosis variant 0. Residual activities toward natural and different synthetic substrates.

Authors: H J Kytzia; U Hinrichs; K Sandhoff
Journal: Hum Genet Date: 1984 Impact factor: 4.132

8. Studies on complementation of beta hexosaminidase deficiency in human GM2 gangliosidosis.

Authors: M C Rattazzi; J A Brown; R G Davidson; T B Shows
Journal: Am J Hum Genet Date: 1976-03 Impact factor: 11.025

9. beta-Hexosaminidase isozymes from cells cotransfected with alpha and beta cDNA constructs: analysis of the alpha-subunit missense mutation associated with the adult form of Tay-Sachs disease.

Authors: C A Brown; D J Mahuran
Journal: Am J Hum Genet Date: 1993-08 Impact factor: 11.025

10. Recombinant GM2-activator protein stimulates in vivo degradation of GA2 in GM2 gangliosidosis AB variant fibroblasts but exhibits no detectable binding of GA2 in an in vitro assay.

Authors: U Bierfreund; T Lemm; A Hoffmann; G Uhlhorn-Dierks; R A Childs; C T Yuen; T Feizi; K Sandhoff
Journal: Neurochem Res Date: 1999-02 Impact factor: 3.996