Ben-Ari, Ziv; Dalal, Adam; Morry, Ady; Pitlik, Silvio; Zinger, Pierre; Cohen, Jonathan; Fattal, Ittai; Galili-Mosberg, Ronit; Tessler, Debora; Baruch, Ruth Gershoni; Nuoffer, Jean-Marc; Largiader, Carlo R; Mandel, Hanna (2010). Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins' diet. Journal of hepatology, 52(2), pp. 292-5. Amsterdam: Elsevier 10.1016/j.jhep.2009.11.014
Full text not available from this repository.Late-onset symptoms of urea-cycle disorder may lead to a life-threatening disease which is often undetected. We report the clinical and metabolic manifestations of acute hyperammonemic encephalopathy in a 47-year-old asymptomatic man with ornithine transcarbamylase (OTC) deficiency. The hyperammonemic encephalopathy was unmasked by a high-protein Atkins diet.
Item Type: |
Journal Article (Original Article) |
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Division/Institute: |
04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Institute of Clinical Chemistry |
UniBE Contributor: |
Nuoffer, Jean-Marc, Largiadèr, Carlo Rodolfo |
ISSN: |
0168-8278 |
Publisher: |
Elsevier |
Language: |
English |
Submitter: |
Factscience Import |
Date Deposited: |
04 Oct 2013 14:07 |
Last Modified: |
05 Dec 2022 14:00 |
Publisher DOI: |
10.1016/j.jhep.2009.11.014 |
PubMed ID: |
20031247 |
Web of Science ID: |
000275390500023 |
URI: |
https://boris.unibe.ch/id/eprint/263 (FactScience: 197212) |