Urea Cycle defects in Argentina. Rare or undiagnosed diseases? Local experience in its diagnosis and characterization
Urea cycle defects (UCD) are inborn errors of ammonia detoxification / arginine synthesis. The severity of the UCD is very variable depending on the specific mutation involved in correlation with the residual enzymatic function. The exact incidence of UCD in Argentina is unknown due to the absence o...
| Found in: |
Portal de Revistas |
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| Main Authors: | Silvera Ruiz , SM, Angaroni, CJ, Grosso, CL, Guelbert, N, Becerra, A, Peralta , F, Dodelson de Kremer, R, Laróvere, LE |
| Format: | Online |
| Language: | spa |
| Published: |
Universidad Nacional Cba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología
2019
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| Online Access: |
https://revistas.unc.edu.ar/index.php/med/article/view/25756 |