Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5513891 | Molecular Genetics and Metabolism | 2017 | 7 Pages |
Abstract
The c.482GÂ >Â A (p.Arg161Gln) pathogenic variant is associated with milder disease. These individuals may not receive a timely diagnosis as they may not be identified on newborn screening or because of unrecognized, late onset symptoms. Despite the milder presentation, significant complications can occur, especially if treatment is delayed.
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Authors
Mohammed Almannai, Ronit Marom, Kristian Divin, Fernando Scaglia, V. Reid Sutton, William J. Craigen, Brendan Lee, Lindsay C. Burrage, Brett H. Graham,