| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10833679 | Molecular Genetics and Metabolism | 2012 | 9 Pages |
Abstract
⺠Compare outcomes in GA-1 diagnosed clinically or by expanded newborn screening. ⺠The rate of 3 adverse outcomes was reduced when identified by newborn screening. ⺠Widening of Sylvian fissures resolved by 4 years of age in treated patients. ⺠Discovered direct correlation between plasma lysine and urinary glutaric acid.
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Authors
Krista Viau, Sharon L. Ernst, Rena J. Vanzo, Lorenzo D. Botto, Marzia Pasquali, Nicola Longo,