Concepedia

Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings

E. Hund, A Grau, W. Fogel, Michael Forsting, Michael Cantz, B. Kustermann‐Kuhn, K. Harzer, Ruth Navon, Hans H. Goebel, H.-M. Meinck

Journal of the Neurological Sciences · 1997 · 43 citations · 29 references

DOI

Concepts

References

29

The Metabolic Basis of Inherited Disease.

Annals of Internal Medicine · 1988 · 7.8K citations

, , +12

Natural History and Inherited Disorders of a Lysosomal Enzyme, β-Hexosaminidase

Elizabeth F. Neufeld · Journal of Biological Chemistry · 1989 · 155 citations · Full text

, , +6

The Mutations in Ashkenazi Jews with Adult G <sub>M2</sub> Gangliosidosis, the Adult Form of Tay-Sachs Disease

Ruth Navon, Richard L. Proia · Science · 1989 · 144 citations

, , +17

Adult (Chronic) GM2 Gangliosidosis

Isabelle Rapin · Archives of Neurology · 1976 · 137 citations

Hexosaminidase A deficiency in adults

Ruth Navon, Zohar Argov, Amos Frisch et al. · American Journal of Medical Genetics · 1986 · 114 citations