Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male-Reference-Cited by-同舟云学术

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Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male

Published:2008-05-07 Issue:3 Volume:2 Page:390-394
ISSN:1936-0533
Container-title:Hepatology International
language:en
Short-container-title:Hepatol Int

Author:

Klein Ophir D.,Kostiner Dana R.,Weisiger Kara,Moffatt Ellen,Lindeman Neal,Goodman Stephen,Tuchman Mendel,Packman Seymour

Publisher

Springer Science and Business Media LLC

Subject

Hepatology

Link

http://link.springer.com/content/pdf/10.1007/s12072-008-9078-x.pdf

Reference12 articles.

1. Tuchman M, Morizono H, Rajagopal BS, Plante RJ, Allewell NM. The biochemical and molecular spectrum of ornithine transcarbamylase deficiency. J Inherit Metab Dis 1998;21(Suppl 1):40–58.

2. Tuchman M, Jaleel N, Morizono H, Sheehy L, Lynch MG. Mutations and polymorphisms in the human ornithine transcarbamylase gene. Hum Mutat 2002;19:93–107.

3. Garcia-Perez MA, Climent C, Briones P, Vilaseca MA, Rodes M, Rubio V. Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: a hypothesis on the molecular mechanism of the OTC deficiency. J Inherit Metab Dis 1997;20:769–77.

4. Hentzen D, Pelet A, Feldman D, Rabier D, Berthelot J, Munnich A. Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene. Hum Genet 1991;88:153–6.

5. Tuchman M, Plante RJ, McCann MT, Qureshi AA. Seven new mutations in the human ornithine transcarbamylase gene. Hum Mutat 1994;4:57–60.

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1. UK National audit of the measurement of ammonia;Annals of Clinical Biochemistry: International Journal of Laboratory Medicine;2023-01-17

2. Corticosteroid suppresses urea-cycle-related gene expressions in ornithine transcarbamylase deficiency;BMC Gastroenterology;2022-03-28

3. Hyperammonaemic Encephalopathy Caused by Adult-Onset Ornithine Transcarbamylase Deficiency;Brain Sciences;2022-02-08

4. Late-onset ornithine transcarbamylase deficiency mimicking a focal opercular syndrome;Practical Neurology;2022-01-19

5. Valproate-induced fatal acute hyperammonaemia-related encephalopathy in late-onset ornithine transcarbamylase deficiency;BMJ Case Reports;2021-05

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