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ALLMedicine™ Aspartylglycosaminuria Center

Research & Reviews  2 results

Aspartylglycosaminuria
https://rarediseases.info.nih.gov/diseases/5854/aspartylglycosaminuria

Aug 17th, 2011 - Aspartylglycosaminuria is a very rare lysosomal storage disease that causes a progressive decline in mental functioning. Infants with aspartylglycosaminuria appear healthy at birth with signs and symptoms beginning around the age of 2 or 3. Major ...

Early initiation of enzyme replacement therapy improves metabolic correction in the bra...
https://doi.org/10.1007/s10545-010-9158-7
Journal of Inherited Metabolic Disease; Dunder U, Valtonen P et. al.

Jul 8th, 2010 - Aspartylglycosaminuria (AGU) is a lysosomal storage disease caused by deficient activity of glycosylasparaginase (AGA), and characterized by motor and mental retardation. Enzyme replacement therapy (ERT) in adult AGU mice with AGA removes the accu...

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