Results 21 to 30 of about 3,294,575 (284)
Ornithine Transcarbamylase – From Structure to Metabolism: An Update
Frontiers in Physiology, 2021 Ornithine transcarbamylase (OTC; EC 2.1.3.3) is a ubiquitous enzyme found in almost all organisms, including vertebrates, microorganisms, and plants. Anabolic, mostly trimeric OTCs catalyze the production of L-citrulline from L-ornithine which is a part ...
Morgane Couchet +7 more
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Rare Adult-onset Citrullinemia Type 1 in the Postpartum Period: A Case Report
Clinical Practice and Cases in Emergency Medicine, 2023 Introduction: Citrullinemia type 1 (CTLN1) is a urea cycle disorder caused by defective argininosuccinate synthetase leading to impaired ammonia elimination.
Michael Borsuk +2 more
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Journal of Medical Case Reports, 2021 Background Hyperammonemic encephalopathy, a rare but fatal condition, is increasingly being reported as a possible complication of bariatric surgery.
Nuphar Vinegrad +3 more
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SAGE Open Medical Case Reports, 2014 Introduction: Ornithine transcarbamylase deficiency is the most common inherited disorder of the urea cycle, has a variable phenotype, and is caused by mutations in the OTC gene.
Eric T Rush +3 more
doaj +1 more source
Urea Cycle Disorders in Neonates: Six Case Reports
Journal of Pediatric Research, 2017 Urea cycle disorders are a group of diseases associated with hyperammonemia, which causes severe neurological sequelae, seizures and psychomotor retardation. In this study, six newborn cases diagnosed between 2010-2014 as citrullinemia Type I (four cases)
Kıymet Çelik +7 more
doaj +1 more source
High Protein Diet and Huntington's Disease. [PDF]
PLoS ONE, 2015 Huntington's disease (HD) is a neurodegenerative disorder caused by the huntingtin (HTT) gene with expanded CAG repeats. In addition to the apparent brain abnormalities, impairments also occur in peripheral tissues.
Chiung-Mei Chen +10 more
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Transportation Research Interdisciplinary Perspectives, 2023 Previous studies have shown that lack of attention and delayed reactions cause most car crashes. Populations with known deficits in executive function domains such as inattention and lack of mobility would potentially be vulnerable.
Kosar Khaksari +3 more
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Hepatic Manifestations of Urea Cycle Disorders [PDF]
Clinical Liver Disease, 2021 Content available: Author Interview and Audio Recording.
Alanna, Strong +3 more
openaire +2 more sources
Disease Models & Mechanisms, 2014 The urea cycle functions to incorporate ammonia, generated by normal metabolism, into urea. Urea cycle disorders (UCDs) are caused by loss of function in any of the enzymes responsible for ureagenesis, and are characterized by life-threatening episodes ...
Peter J. McGuire +8 more
doaj +1 more source
Hyperammonemic coma in a patient with late-onset OTC deficiency
La Pediatria Medica e Chirurgica, 2014 Urea Cycle Disorders ( UCD ) are among the most common genetic diseases of the metabolism and ornithine transcarbamylase deficiency (OTC), an X-linked defect is the most frequent among them.
V. D’Onofrio +5 more
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