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Sandhoff "disease," adult form
- ... first appear: infantile, juvenile, and adult.The infantile form of Sandhoff disease is the most common and severe form and ... organomegaly), or bone abnormalities. Children with the infantile form of Sandhoff disease usually live only into early childhood.The juvenile ...
- ... variants in the HEXB gene cause the severe form of Sandhoff disease, which becomes apparent in infancy. These variants prevent ... genetic changes are responsible for the less severe forms of Sandhoff disease, which appear later in life. More About This ...
- Lipid Metabolism Disorders/Specifics ... Lipid Metabolism Disorders ... National Institute of Neurological Disorders and Stroke ... From the National Institutes of Health
- Gaucher Disease/Learn More ... Gaucher Disease ... Lipid Metabolism Disorders/Start Here ... Lipid Metabolism Disorders ... Tay-Sachs Disease/Related Issues ... Tay-Sachs Disease
- ... the enzyme beta-hexosaminidase and is a severe form of the neurological disorder called Tay-Sachs disease.
- Tay-Sachs Disease/Start Here ... Tay-Sachs Disease ... Tay-Sachs disease is a rare, inherited metabolic disease that mostly affects young children and involves ...
- ... Proia RL. Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling. Hum Mol ...
(National Institute of Neurological Disorders and Stroke) 