Availability: reference only
Location: ---
Copies:
---
| |  Online resource |
|---|
| Verfasst von: | Unsinn, Caroline [VerfasserIn]  |
|---|
| | Hoffmann, Georg Friedrich [VerfasserIn] |
|---|
| Titel: | Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013 |
|---|
| Verf.angabe: | 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 |
|---|
| Fussnoten: | Gesehen am 14.03.2018 |
|---|
| Titel Quelle: | Enthalten in: Orphanet journal of rare diseases |
|---|
| Jahr Quelle: | 2016 |
|---|
| Band/Heft Quelle: | 11(2016) Artikel-Nummer 116, 11 Seiten |
|---|
| ISSN Quelle: | 1750-1172 |
|---|
| Abstract: | 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. |
|---|
| DOI: | doi:10.1186/s13023-016-0493-0 |
|---|
| URL: | Bibliographic entry. University members only receive access to full-texts for open access or licensed publications.
Kostenfrei: Verlag: http://dx.doi.org/10.1186/s13023-016-0493-0 |
|---|
| | Kostenfrei: Verlag: https://doi.org/10.1186/s13023-016-0493-0 |
|---|
| | DOI: https://doi.org/10.1186/s13023-016-0493-0 |
|---|
| Datenträger: | Online-Ressource |
|---|
| Sprache: | eng |
|---|
| K10plus-PPN: | 1571051937 |
|---|
| Verknüpfungen: | → Journal |
|---|
Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013 / Unsinn, Caroline [VerfasserIn] (Online-Ressource)
68230528
