Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001–2013
Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001–2013
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
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 their survival and outcome prognoses are often limited. To under...
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Full title
Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001–2013
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4991093
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4991093
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-016-0493-0
