Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: hexosaminidase A deficiency with late clinical onset in four siblings
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology
Reference39 articles.
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2. An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuclear ophthalmoplegia;Barnes;J Neurol Neurosurg Psychiatry,1991
3. Late onset GM2-gangliosidosis. Clinical, pathological, and biochemical studies on 8 patients;Brett;Arch Dis Child,1973
4. Ultrastructural pathology of skin biopsy and fibroblast enzyme studies in a case of GM2-gangliosidosis with deficient hexosaminidase A and thermolabile hexosaminidase B;Burck;Neuropediatrics,1980
5. Fine structure of cutaneous nerves in ganglioside storage disease;Dolman;J Neurol Neurosurg Psychiatry,1977
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