Adult Presentation of Ornithine Transcarbamylase Deficiency: 2 Illustrative Cases of Phenotypic Variability and Literature Review-Reference-Cited by-同舟云学术

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Adult Presentation of Ornithine Transcarbamylase Deficiency: 2 Illustrative Cases of Phenotypic Variability and Literature Review

Published:2018-03-26 Issue:1 Volume:9 Page:30-36
ISSN:1941-8744
Container-title:The Neurohospitalist
language:en
Short-container-title:The Neurohospitalist

Author:

Pizzi Michael A.¹,Alejos David²,Hasan Tasneem F.³,Atwal Paldeep S.⁴,Krishnaiengar Suparna R.⁵,Freeman William D.¹²

Affiliation:

1. Department of Neurology, Mayo Clinic, Jacksonville, FL, USA

2. Department of Critical Care, Mayo Clinic, Jacksonville, FL, USA

3. Department of Neurologic Surgery, Mayo Clinic, Jacksonville, FL, USA

4. Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA

5. Department of Neurology, University of Florida, Jacksonville, FL, USA

Publisher

SAGE Publications

Subject

Clinical Neurology

Link

http://journals.sagepub.com/doi/pdf/10.1177/1941874418764817

Reference40 articles.

1. Ammonia toxicity and its prevention in inherited defects of the urea cycle

2. Incidence of Inborn Errors of Metabolism in British Columbia, 1969–1996

3. Fatal coma in a young adult due to late-onset urea cycle deficiency presenting with a prolonged seizure: a case report

4. Teaching NeuroImages: Ornithine transcarbamylase deficiency revealed by a coma in a pregnant woman

5. Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins’ diet

Cited by 14 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Clinical characteristics and molecular genetic analysis of ten cases of ornithine carbamoyltransferase deficiency in southeastern China;Italian Journal of Pediatrics;2024-09-11

2. Adult-Onset Ornithine Transcarbamylase Deficiency in a 51-Year-Old Man Who Presented With Fatal Hyperammonemic Encephalopathy;Annals of Internal Medicine: Clinical Cases;2024-05-01

3. When rare meets common: Treatable genetic diseases are enriched in the general psychiatric population;American Journal of Medical Genetics Part A;2024-03-26

4. Severe Sepsis Associated With Multiorgan Failure and Precipitating Nonhepatic Hyperammonemia Crisis in Late-Onset Ornithine Transcarbamylase Deficiency: A Case Report and Literature Review;Cureus;2024-03-07

5. Clinical characteristics and molecular genetic analysis of ten cases of ornithine carbamoyltransferase deficiency in southeastern China;2023-11-24

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