Literature DB >> 20090522

Neonatal liver failure: a genetic and metabolic perspective.

Margarita Sifuentes Saenz1, Johan Van Hove, Gunter Scharer.   

Abstract

Liver failure in newborns can present formidable diagnostic challenges. The presentation of neonatal liver failure is variable and the initial assessment is crucial in the determination of potentially treatable causes. We present a case of neonatal hemochromatosis, review genetic and metabolic causes of neonatal liver failure, and outline an updated differential diagnosis of neonatal liver failure. In addition, we propose a comprehensive initial work-up of neonatal liver failure, and review current treatments for neonatal hemochromatosis.

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Year:  2010        PMID: 20090522     DOI: 10.1097/MOP.0b013e328336ebe1

Source DB:  PubMed          Journal:  Curr Opin Pediatr        ISSN: 1040-8703            Impact factor:   2.856


  1 in total

1.  De novo duplication of chromosome 16p in a female infant with signs of neonatal hemochromatosis.

Authors:  Eva Maria Christina Schwaibold; Iris Bartels; Helmut Küster; Michael Lorenz; Peter Burfeind; Ronja Adam; Barbara Zoll
Journal:  Mol Cytogenet       Date:  2014-01-23       Impact factor: 2.009

  1 in total

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