Juvenile spinal muscular atrophy: A new hexosaminidase deficiency phenotype
Author:
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Reference23 articles.
1. Late onset GM2-gangliosidosis: Clinical, pathological, and biochemical studies on 8 patients
2. The nosology of the spinal muscular atrophies.
3. : Principles of genetics in neuromuscular disease. In (ed): Practice of Pediatrics, Vol 4. New York, Harper & Row, 1979
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