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Improving Long Term Outcomes in Urea Cycle Disorders-Report from the Urea Cycle Disorders Consortium
The Urea Cycle Disorders Consortium (UCDC) has conducted, beginning in 2006, a longitudinal study (LS) of 8 enzyme deficiencies/transporter defects associated with the urea cycle. These include N-acetylglutamate synthase deficiency (NAGSD); Carbamyl phosphate synthetase 1 deficiency (CPS1D); Ornithi...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | J Inherit Metab Dis |
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| Κύριοι συγγραφείς: | , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2016
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4921309/ https://ncbi.nlm.nih.gov/pubmed/27215558 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-016-9942-0 |
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