Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders—review and meta-analysis of observational studies published over more than 35 years
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  • 作者:Peter Burgard ; Stefan Kölker ; Gisela Haege…
  • 刊名:Journal of Inherited Metabolic Disease
  • 出版年:2016
  • 出版时间:March 2016
  • 年:2016
  • 卷:39
  • 期:2
  • 页码:219-229
  • 全文大小:1,590 KB
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  • 作者单位:Peter Burgard (1)
    Stefan Kölker (1)
    Gisela Haege (1)
    Martin Lindner (2)
    Georg F. Hoffmann (1)

    1. Centre for Paediatric and Adolescent Medicine, Division for Neuropaediatrics and Metabolic Medicine, Heidelberg University Hospital, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany
    2. University Hospital Frankfurt, Children’s Hospital, Theodor-Stern-Kai 7, D-60590, Frankfurt am Main, Germany
  • 刊物类别:Medicine
  • 刊物主题:Medicine & Public Health
    Internal Medicine
    Metabolic Diseases
    Human Genetics
    Biochemistry
    Pediatrics
  • 出版者:Springer Netherlands
  • ISSN:1573-2665
文摘
Background For urea cycle disorders (UCD), proportions and mortality of early onset (EO) patients, as well as outcome at one year of life show large variability. We aimed to integrate available evidence to create benchmarks for new diagnostic and therapeutic strategies.

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