Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013
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...
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| Main Authors: | , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
19 August 2016
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| In: |
Orphanet journal of rare diseases
Year: 2016, Volume: 11 |
| ISSN: | 1750-1172 |
| DOI: | 10.1186/s13023-016-0493-0 |
| Online Access: | Verlag, kostenfrei, Volltext: http://dx.doi.org/10.1186/s13023-016-0493-0 Verlag, kostenfrei, Volltext: https://doi.org/10.1186/s13023-016-0493-0 
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| Author Notes: | Caroline Unsinn, Anibh Das, Vassili Valayannopoulos, Eva Thimm, Skadi Beblo, Alberto Burlina, Vassiliki Konstantopoulou, Sebene Mayorandan, Pascale de Lonlay, Jörg Rennecke, Jens Derbinski, Georg F. Hoffmann, Johannes Häberle |
| Summary: | 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. |
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| Item Description: | Gesehen am 14.03.2018 |
| Physical Description: | Online Resource |
| ISSN: | 1750-1172 |
| DOI: | 10.1186/s13023-016-0493-0 |