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Literature DB >> 25123069

Four-decade-old mummified umbilical tissue making retrospective molecular diagnosis of ornithine carbamoyltransferase deficiency.

Toshiki Takenouchi¹, Yuki Tsukahara, Reiko Horikawa, Kenjiro Kosaki, Rika Kosaki.

Abstract

Entities: Disease

Keywords: inborn errors of metabolism; mummification; umbilicus; urea cycle disorders

Mesh：

Year: 2014 PMID： 25123069 DOI： 10.1002/ajmg.a.36671

Source DB: PubMed Journal: Am J Med Genet A ISSN： 1552-4825 Impact factor: 2.802

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1 in total

1. 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
Journal: Int J Legal Med Date: 2016-01-11 Impact factor: 2.686

1 in total