A Novel Mutation of the Ornithine Transcarbamylase Gene Leading to Fatal Hyperammonemia in a Liver Transplant Recipient
Author:
Affiliation:
1. Department of Anesthesia and Critical Care; Cairo University; Egypt
2. Ain-Shams Center for Organ Transplant (ASCOT); Ain Shams University, Cairo; Egypt
3. Department of Clinical and Chemical Pathology; Cairo University; Egypt
Publisher
Wiley
Subject
Pharmacology (medical),Transplantation,Immunology and Allergy
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/ajt.12146/fullpdf
Reference16 articles.
1. Preclinical evaluation of a clinical candidate AAV8 vector for ornithine transcarbamylase (OTC) deficiency reveals functional enzyme from each persisting vector genome;Wang;Mol Genet Metab,2012
2. Neurodevelopmental outcome of long-term therapy of urea cycle disorders in Japan;Uchino;J Inherit Metab Dis,1998
3. X-inactivation pattern in the liver of a manifesting female with ornithine transcarbamylase (OTC) deficiency;Yorifuji;Clin Genet,1998
4. Inherited Hyperammonemias
5. Neurological implications of urea cycle disorders;Gropman;J Inherit Metab Dis,2007
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1. Developmental and Inherited Liver Disease;MacSween's Pathology of the Liver;2024
2. Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review;Frontiers in Genetics;2022-10-11
3. Outcomes After Living Donor Liver Transplantation in Pediatric Patients with Inherited Metabolic Diseases;Annals of Transplantation;2021-08-31
4. Impact of Screening and Treatment of Ureaplasma species on Hyperammonemia Syndrome in Lung Transplant Recipients: A Single Center Experience;Clinical Infectious Diseases;2020-10-17
5. Gene Mutation Analysis and Prenatal Diagnosis of the Ornithine Transcarbamylase (OTC) Gene in Two Families with Ornithine Transcarbamylase Deficiency;Medical Science Monitor;2018-10-18
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