Results 41 to 50 of about 51,297 (232)
Orphanet Journal of Rare Diseases, 2020 Background This study aimed to describe the clinical and biochemical features of Chinese patients with ornithine transcarbamylase deficiency (OTCD), and to investigate the mutation spectrum of OTC gene and their potential correlation with phenotype ...
D. Lu +10 more
semanticscholar +1 more source
Stem Cell Research, 2020 An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells of a 3-day-old boy with 47,XXY and ornithine transcarbamylase deficiency carrying hemizygote mutation (c.663+2T>G (sliping)) in OTC. The iPSCs had original
Xiaomeng Yang +9 more
doaj +1 more source
Acute Medicine & Surgery, 2020 Ornithine transcarbamylase is an enzyme of the urea cycle, which produces urea from ammonia. Although ornithine transcarbamylase deficiency mainly occurs as a severe neonatal‐onset disease, a late‐onset form that could become symptomatic from infancy to ...
Masao Hidaka +8 more
semanticscholar +1 more source
Ornithine Transcarbamylase Deficiency in Iranian Children [PDF]
Iranian Journal of Public Health, 2003 Ammonia is a toxic material for mammalians. It is detoxificated and converted to urea in the urea cycle in liver. Each defect in the urea cycle cause increase in blood ammonia level.
HR Joshaghani, M Jalali, T Zaman
doaj +2 more sources
Evaluation of Neurocognitive Function of Prefrontal Cortex in Ornithine Transcarbamylase Deficiency
Molecular Genetics and Metabolism, 2020 Hyperammonia due to ornithine transcarbamylase deficiency (OTCD) can cause a range of deficiencies in domains of executive function and working memory. Only a few fMRI studies have focused on neuroimaging data in a population with OTCD.
Afrouz A. Anderson +4 more
semanticscholar +1 more source
Molecular Therapy: Methods & Clinical Development, 2020 Ornithine transcarbamylase deficiency (OTCD) is an X-linked liver disorder caused by partial or total loss of OTC enzyme activity. It is characterized by elevated plasma ammonia, leading to neurological impairments, coma, and death in the most severe ...
G. de Sabbata +16 more
semanticscholar +1 more source
NEUROSPORA MUTANTS LACKING ORNITHINE TRANSCARBAMYLASE [PDF]
Genetics, 1964 Mutants lacking ornithine transcarbamylase, the enzyme which couples ornlthine to carbamyl phosphate, were isolated by two methods: as suppressors of the class of pyr-3 mutants displaying in vitro aspartic transcarbamylase activity, and by the filtration and selective plating technic, using conidia of a suppressor mutation, s.
V W, WOODWARD, P, SCHWARZ
openaire +2 more sources
ORNITHINE TRANSCARBAMYLASE DEFICIENCY IN REYEʼS SYNDROME [PDF]
Pediatric Research, 1975 Hyperammonemia is observed regulary in patients with Reye's Syndrome /RS/, and may be a crucial determinant of the encephalopathy in this often lethal condition. Since ammonia detoxification depends on an intact urea cycle and since patients with inherited defects of a single urea cycle enzyme also demonstrate hyperammonemia, we sought to define the ...
B Francois, F Ricciuti, L E Rosenberg
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, 2021 Background: Orotic acid (OA) is the key parameter in the detection of ornithine transcarbamylase deficiency (OTC-D).
Sander, Johannes +8 more
core +1 more source
Turnover of rat liver ornithine transcarbamylase [PDF]
FEBS Letters, 1986 The relative half‐life of ornithine transcarbamylase from rat liver has been determined using the double isotope technique and affinity chromatography. The calculated half‐life (6–9 days) is similar to that of mitochondria and of the other mitochondrial enzyme of the urea cycle, carbamoyl‐phosphate synthase.
Wallace, Ruth +2 more
openaire +2 more sources