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01-05-2016 | Case Report

Ornithine transcarbamylase deficiency of a male newborn with fatal outcome

Authors: Benno Hartung, Oliver Temme, Eva Neuen-Jacob, Stefanie Ritz-Timme, Katrin Hinderhofer, Thomas Daldrup

Published in: International Journal of Legal Medicine | Issue 3/2016

Abstract

Ornithine transcarbamylase deficiency (OTCD) is the most common malfunction of ureagenesis. The case of a male newborn who died at the age of 2 days for clinically unclear reasons is presented. The post-mortem routine and esoteric testing methods that finally led to the diagnosis of a fatal case of OTCD are outlined here.

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Title: Ornithine transcarbamylase deficiency of a male newborn with fatal outcome
Authors: Benno Hartung
Oliver Temme
Eva Neuen-Jacob
Stefanie Ritz-Timme
Katrin Hinderhofer
Thomas Daldrup
Publication date: 01-05-2016
Publisher: Springer Berlin Heidelberg
Published in: International Journal of Legal Medicine / Issue 3/2016
Print ISSN: 0937-9827
Electronic ISSN: 1437-1596
DOI: https://doi.org/10.1007/s00414-015-1311-2

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Ornithine transcarbamylase deficiency of a male newborn with fatal outcome

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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