| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 1998386 | Molecular Genetics and Metabolism | 2012 | 9 Pages |
Abstract
⺠A salvageable mouse model of a complete urea cycle disorder has been developed. ⺠Homozygous NAGS knockout mouse is rescued by N-carbamylglutamate and l-citrulline. ⺠On rescue chemicals, the homozygous mouse reaches adulthood and reproduces. ⺠Off rescue, the mouse dies within 24-48 h from hyperammonemia. ⺠The mouse model recapitulates a severe proximal urea cycle disorder.
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Authors
Emilee Senkevitch, Juan Cabrera-Luque, Hiroki Morizono, Ljubica Caldovic, Mendel Tuchman,