Fatal presentation of ornithine transcarbamylase deficiency in a 62-year-old man and family studies-Reference-Cited by-同舟云学术

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Fatal presentation of ornithine transcarbamylase deficiency in a 62-year-old man and family studies

Published:2004-03 Issue:2 Volume:27 Page:285-288
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Rohininath T.¹,Costello D. J.²,Lynch T.²,Monavari A.¹,Tuchman M.³,Treacy E. P.¹

Affiliation:

1. ; National Centre for Inherited Metabolic Disorders; The Children's University Hospital; Dublin

2. ; Department of Neurology; The Mater Misericordiae Hospital; Dublin Ireland

3. ; Children's National Medical Center; George Washington University; Washington DC USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/B:BOLI.0000028840.97261.c6/fullpdf

Reference3 articles.

1. The ornithine transcarbamylase (OTC) gene: mutations in 50 Japanese families with OTC deficiency;Matsuda;Am J Med Genet,1997

2. Mutations and polymorphisms in the human ornithine transcarbamylase gene;Tuchman;Hum Mutat,2002

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1. Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency;Children;2023-08-09

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

3. Challenges in diagnosing and managing adult patients with urea cycle disorders;Journal of Inherited Metabolic Disease;2019-05-08

4. Approach to and Evaluation of Metabolic Liver Diseases;Zakim and Boyer's Hepatology;2018

5. Psychiatric adult-onset of urea cycle disorders: A case-series;Molecular Genetics and Metabolism Reports;2017-09

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