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Published in 2022 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.51668
Abstract: Ornithine transcarbamylase deficiency (OTC‐D) is an X‐linked metabolic disease and the most common urea cycle disorder. Due to high phenotypic heterogeneity, ranging from lethal neonatal hyperammonemic events to moderate symptoms and even asymptomatic individuals, the…
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Keywords:
ornithine transcarbamylase;
severity;
predicting disease;
transcarbamylase deficiency ... See more keywords
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Published in 2022 at "Brain and Behavior"
DOI: 10.1002/brb3.2765
Abstract: Ornithine transcarbamylase deficiency (OTCD) is a genetic metabolic disease. Its clinical manifestations are mainly central nervous system dysfunction caused by high blood ammonia. Late‐onset OTCD combined with central nervous system injury has a poor therapeutic…
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Keywords:
system;
ornithine transcarbamylase;
central nervous;
nervous system ... See more keywords
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Published in 2020 at "Lwt - Food Science and Technology"
DOI: 10.1016/j.lwt.2020.109953
Abstract: Abstract Ornithine transcarbamylase (OTC) is an enzyme that participates in the degradation of arginine by catalyzing the formation of ornithine and carbamoyl phosphate from citrulline, which is a major precursor of ethyl carbamate (EC), a…
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Keywords:
directed mutation;
ornithine;
site directed;
ornithine transcarbamylase ... See more keywords
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Published in 2021 at "Stem cell research"
DOI: 10.1016/j.scr.2021.102220
Abstract: Ornithine transcarbamylase deficiency (OTCD) is a rare X-linked urea cycle disorder. Maternal OTCD can lead to life-threatening hyperammonemia if untreated. Here, we report the Generation of an iPSC line from a patient with OTCD carrying…
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Keywords:
involving exons;
ornithine transcarbamylase;
carrying deletion;
deletion involving ... See more keywords
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Published in 2020 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2019.12.014
Abstract: 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…
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Keywords:
ornithine transcarbamylase;
neurocognitive function;
pfc;
activation ... See more keywords
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Published in 2022 at "Scientific Reports"
DOI: 10.1038/s41598-022-06184-w
Abstract: Autologous cell replacement therapy for inherited metabolic disorders requires the correction of the underlying genetic mutation in patient’s cells. An unexplored alternative for females affected from X-linked diseases is the clonal selection of cells randomly…
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Keywords:
ornithine transcarbamylase;
inactivation;
like cells;
transcarbamylase deficiency ... See more keywords
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Published in 2022 at "Practical Neurology"
DOI: 10.1136/practneurol-2021-003196
Abstract: A previously healthy 27-year-old man was brought to hospital after been found late at night confused, agitated and talking incoherently. He represented 12 days later with focal seizures, progressing to anarthria and encephalopathy. MR scan…
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Keywords:
ornithine transcarbamylase;
onset ornithine;
transcarbamylase;
late onset ... See more keywords
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Published in 2020 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-020-01606-2
Abstract: 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. Methods…
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Keywords:
patients ornithine;
early onset;
ornithine transcarbamylase;
chinese patients ... See more keywords
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Published in 2022 at "World Journal of Clinical Cases"
DOI: 10.12998/wjcc.v10.i4.1417
Abstract: BACKGROUND Ornithine transcarbamylase deficiency (OTCD) is a common ornithine cycle disorder, and OTC gene variation is the main pathogenic factor of this disease. This study explored and validated a variant in the OTC gene. CASE…
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Keywords:
ornithine transcarbamylase;
gene;
case;
transcarbamylase deficiency ... See more keywords
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Published in 2020 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2020.00809
Abstract: Ornithine transcarbamylase deficiency (OTCD) is the most common form of urea cycle disorder characterized by the presence of hyperammonemia (HA). In patients with OTCD, HA is known to cause impairments in domains of executive function…
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Keywords:
ornithine transcarbamylase;
function;
hemodynamics prefrontal;
transcarbamylase deficiency ... See more keywords
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Published in 2022 at "Diagnostics"
DOI: 10.3390/diagnostics12020415
Abstract: Ornithine transcarbamylase (OTC) deficiency is the most common inherited metabolic disorder in urea cycles with an incidence of 1:14,000 live births. Pregnancy, childbirth and the postpartum period are considered challenging for women with this hereditary…
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Keywords:
otc deficiency;
ornithine transcarbamylase;
pregnancy;
transcarbamylase otc ... See more keywords