Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency
Sign Up to like & getrecommendations! 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… read more here.
Keywords: ornithine transcarbamylase; severity; predicting disease; transcarbamylase deficiency ... See more keywords
Liver transplantation in rare late‐onset ornithine transcarbamylase deficiency with central nervous system injury: A case report and review of the literature
Sign Up to like & getrecommendations! 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… read more here.
Keywords: system; ornithine transcarbamylase; central nervous; nervous system ... See more keywords
Generation of a human induced pluripotent stem cell line (SDQLCHi036-A) from a patient with ornithine transcarbamylase deficiency carrying a deletion involving 3-9 exons of OTC gene.
Sign Up to like & getrecommendations! 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… read more here.
Keywords: involving exons; ornithine transcarbamylase; carrying deletion; deletion involving ... See more keywords
Evaluation of neurocognitive function of prefrontal cortex in ornithine transcarbamylase deficiency.
Sign Up to like & getrecommendations! 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… read more here.
Keywords: ornithine transcarbamylase; neurocognitive function; pfc; activation ... See more keywords
Derivation of healthy hepatocyte-like cells from a female patient with ornithine transcarbamylase deficiency through X-inactivation selection
Sign Up to like & getrecommendations! 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… read more here.
Keywords: ornithine transcarbamylase; inactivation; like cells; transcarbamylase deficiency ... See more keywords
Late-onset ornithine transcarbamylase deficiency mimicking a focal opercular syndrome
Sign Up to like & getrecommendations! 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… read more here.
Keywords: ornithine transcarbamylase; onset ornithine; transcarbamylase; late onset ... See more keywords
Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency
Sign Up to like & getrecommendations! 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… read more here.
Keywords: patients ornithine; early onset; ornithine transcarbamylase; chinese patients ... See more keywords
Hemizygous deletion in the OTC gene results in ornithine transcarbamylase deficiency: A case report
Sign Up to like & getrecommendations! 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… read more here.
Keywords: ornithine transcarbamylase; gene; case; transcarbamylase deficiency ... See more keywords
Hemodynamics of Prefrontal Cortex in Ornithine Transcarbamylase Deficiency: A Twin Case Study
Sign Up to like & getrecommendations! 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… read more here.
Keywords: ornithine transcarbamylase; function; hemodynamics prefrontal; transcarbamylase deficiency ... See more keywords
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency
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DOI: 10.3390/life12111721
Abstract: X-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle defect. The disease severity ranges from asymptomatic carrier state to severe neonatal presentation with hyperammonaemic encephalopathy. We audited the diagnosis and management of OTCD,… read more here.
Keywords: ornithine transcarbamylase; three country; country snapshot; transcarbamylase deficiency ... See more keywords