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Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001–2013
BACKGROUND: Urea cycle disorders (UCDs) are rare inherited metabolic defects of ammonia detoxification. In about half of patients presenting with a UCD, the first symptoms appear within a few days after birth. These neonatal onset patients generally have a severe defect of urea cycle function and th...
Αποθηκεύτηκε σε:
Τόπος έκδοσης: | Orphanet J Rare Dis |
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Κύριοι συγγραφείς: | , , , , , , , , , , , , |
Μορφή: | Artigo |
Γλώσσα: | Inglês |
Έκδοση: |
BioMed Central
2016
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Θέματα: | |
Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4991093/ https://ncbi.nlm.nih.gov/pubmed/27538463 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0493-0 |
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