Hyperammonemic encephalopathy in a child with ornithine transcarbamylase deficiency due to a novel combined heterozygous mutations
Author:
Publisher
Elsevier BV
Subject
Emergency Medicine,General Medicine
Reference10 articles.
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3. Ornithine transcarbamylase deficiency: a urea cycle defect;Gordon;Eur J Paediatr Neurol,2003
4. At the intersection of toxicology, psychiatry, and genetics: a diagnosis of ornithine transcarbamylase deficiency;Sloas;Am J Emerg Med,2013
5. Magnetic resonance spectroscopy and molecular studies in ornithine transcarbamylase deficiency novel mutation c.802A>G in exon 8 (p.Met268Val);Jamroz;Neurol Neurochir Pol,2013
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1. Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females;American Journal of Medical Genetics Part A;2020-12-24
2. Clinical features and underlying genetic causes in neonatal encephalopathy: A large cohort study;Clinical Genetics;2020-09-04
3. Recurrent Stroke Like Episodes Secondary to Ornithine Transcarbamylase Deficiency;The Indian Journal of Pediatrics;2020-02-01
4. Application of a New Cultivation Model in an Undergraduate 'Convention and Exhibition Management' Study Program;International Journal of Emerging Technologies in Learning (iJET);2019-09-30
5. Clinical and cranial MRI features of female patients with ornithine transcarbamylase deficiency;Medicine;2019-08
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