Results 31 to 40 of about 9,393 (183)

A zebrafish model of hyperammonemia [PDF]

open access: yesMolecular Genetics and Metabolism, 2014
Hyperammonemia is the principal consequence of urea cycle defects and liver failure, and the exposure of the brain to elevated ammonia concentrations leads to a wide range of neuro-cognitive deficits, intellectual disabilities, coma and death. Current treatments focus almost exclusively on either reducing ammonia levels through the activation of ...
B. Feldman, M. Tuchman, L. Caldovic
openaire   +2 more sources

Valproic acid induced hyperammonemic encephalopathy: A case report (Turkish) [PDF]

open access: yesKlinik Psikiyatri Dergisi, 2018
Valproic acid (VPA) is commonly used drug to treat variety of anticonvulsant and mood stabilizer in psychiatric and neurologic cases. It is thought to be a safe drug with a large therapeutic aspect..Uncommonly, hyperammonemia can be progressed by the
Ferda Apa   +2 more
doaj   +1 more source

A Case of Hyperammonemia Associated with High Dihydropyrimidine Dehydrogenase Activity

open access: yesCase Reports in Oncological Medicine, 2016
Over the past decades, 5-Fluorouracil (5-FU) has been widely used to treat several types of carcinoma, including esophageal squamous cell carcinoma. In addition to its common side effects, including diarrhea, mucositis, neutropenia, and anemia, 5-FU ...
Keiki Nagaharu   +8 more
doaj   +1 more source

Host and fungal factors both contribute to cryptococcosis-associated hyperammonemia (cryptammonia)

open access: yesMicrobiology Spectrum
Cryptococcus neoformans and Cryptococcus gattii are both known urease producers and have the potential to cause hyperammonemia. We hypothesized that the risk of hyperammonemia is increased by renal failure, burden of cryptococcal infection, and fungal ...
Rosanna P. Baker   +6 more
doaj   +1 more source

β‐Catenin/c‐Myc Axis Modulates Autophagy Response to Different Ammonia Concentrations

open access: yesAdvanced Biology, Volume 9, Issue 3, March 2025.
Ammonia, detoxified by the liver into urea and glutamine, impacts autophagy differently at varying levels. Low ammonia activates autophagy via c‐Myc and β‐catenin, while high levels suppress it. Using Huh7 cells and Spf‐ash mice, c‐Myc's role in cytoprotective autophagy is revealed, offering insights into hyperammonemia and potential therapeutic ...
S. Sergio   +11 more
wiley   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta   +17 more
wiley   +1 more source

Hyperammonemia: What Urea-lly Need to Know: Case Report of Severe Noncirrhotic Hyperammonemic Encephalopathy and Review of the Literature

open access: yesCase Reports in Medicine, 2016
Purpose. A 66-year-old man who presented with coma was found to have isolated severe hyperammonemia and diagnosed with a late-onset urea-cycle disorder. He was treated successfully and had full recovery. Methods.
Ruby Upadhyay   +2 more
doaj   +1 more source

Hyperammonemic Encephalopathy in a Patient with Pancreatic Neuroendocrine Tumor and Portosystemic Shunt

open access: yesDiagnostics, 2023
Hyperammonemia can lead to encephalopathy and may be accompanied by a diagnostic dilemma. Imaging as well as biochemical analyses are the cornerstone for identifying possible underlying causes such as severe liver disease or urea cycle defect.
Marcel Zorgdrager   +2 more
doaj   +1 more source

Echocardiography‐Assisted Stenting of the Ductus Venosus in Infracardiac TAPVC: Report of a New Technique and Review of the Literature

open access: yesCatheterization and Cardiovascular Interventions, EarlyView.
ABSTRACT Neonates with infracardiac total anomalous pulmonary venous connection (TAPVC) frequently require urgent treatment. If surgical repair is contraindicated due to extreme prematurity, interventional stenting of the ductus venosus (DV) has been introduced successfully to postpone surgery.
Simon Schmid   +4 more
wiley   +1 more source

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