ALLMedicine™ Hyperammonemia Center
Research & Reviews 447 results
Clinics and Research in Hepatology and Gastroenterology; Schaeffer A, Journaux M et. al.
Sep 14th, 2021 - Hepatic encephalopathy (HE) is a frequent neurological complication of cirrhosis. Evidence suggests a synergic pathophysiological implication of hyperammonemia and systemic inflammation. In addition, the blood-brain barrier (BBB) permeability can ...
https://doi.org/10.1038/s41431-021-00956-0 10.1038/nature11707 10.1212/WNL.0b013e3182918c40 10.1016/j.ajhg.2009.08.004 10.1093/brain/awp221 10.1038/nature19057 10.1073/pnas.93.14.6913 10.1093/brain/awt086 10.1016/j.ajhg.2018.01.020 10.1093/hmg/ddq254 10.1038/ng.246 10.1136/jmg.2003.012047 10.1136/jmg.2007.052084 10.15252/embj.2020105364 10.1101/gr.6089707 10.1093/nar/gky1056 10.1016/j.ajhg.2016.08.014 10.1126/science.aaw4852
European Journal of Human Genetics : EJHG; Lines MA, Cuillerier A et. al.
Sep 7th, 2021 - Mitochondrial disorders are a heterogeneous group of rare, degenerative multisystem disorders affecting the cell's core bioenergetic and signalling functions. Spontaneous improvement is rare. We describe a novel neonatal-onset mitochondriopathy in...
https://doi.org/10.1007/s11011-021-00827-z 10.1016/j.bone.2016.10.023 10.1016/j.ejmg.2015.11.005 10.1016/j.ajhg.2015.05.009 10.1186/s12876-017-0636-3 10.2165/00148581-200709030-00008 10.1007/s10545-015-9896-7 10.1038/s41436-019-0698-4 10.1016/j.ejmg.2020.104039
Metabolic Brain Disease; Lipiński P, Greczan M et. al.
Aug 25th, 2021 - Biallelic pathogenic variants in the neuroblastoma amplified sequence (NBAS) gene were firstly (2015) identified as a cause of fever-triggered recurrent acute liver failure (RALF). Since then, some patients with NBAS deficiency presenting with neu...
Journal of Medical Case Reports; Vinegrad N, Staretz-Chacham O et. al.
Jul 21st, 2021 - Hyperammonemic encephalopathy, a rare but fatal condition, is increasingly being reported as a possible complication of bariatric surgery. Here, we present a case of hyperammonemic encephalopathy, focusing on the clinical presentation, diagnostic ...
BMJ Case Reports; Tawfik P, Arndt P
Jul 11th, 2021 - We report the first incidence of Ureaplasma infection causing lethal hyperammonemia in a chimeric receptor antigen T cell (CAR-T) recipient. A 53-year-old woman, after receiving CAR-T therapy, suffered sepsis and encephalopathy. She was found to h...
Guidelines 1 results
Clinical Toxicology (Philadelphia, Pa.); Ghannoum M, Laliberté M et. al.
May 8th, 2015 - The EXtracorporeal TReatments In Poisoning (EXTRIP) workgroup presents its systematic review and clinical recommendations on the use of extracorporeal treatment (ECTR) in valproic acid (VPA) poisoning. The lead authors reviewed all of the articles...
Drugs 22 results see all →
News 15 results
May 29th, 2020 - In April 2020, the Pediatric Continuous Renal Replacement Therapy Workgroup published their recommendations for the management of hyperammonemia in pediatric patients receiving continuous kidney replacement therapy. Medical Therapy for Hyperamm...
Gary D. Wu, MD
Jul 15th, 2019 - The gut microbiota influences our biology through our mucosal immune system as well as by leading to the production of bioactive small molecules. I’ll describe how gut microbiota influences colon cancer, liver disease, the production of bioactive.
Dec 3rd, 2018 - Case Report Slide Winners Ze Ying Tan: All that wheezes is not asthma Jason Lam: Pulmonary mucor mycetoma Adam Young: Nonresolving pneumonia and cyclic fevers in an immunocompetent patient Ritu Modi: Histopathological misdiagnosis of pulmonary coc.
Sep 28th, 2018 - We spoke with Dr. Shen, instructor of medicine at the University of Pennsylvania and the recipient of the AGA Research Foundation’s 2016 Microbiome Junior Investigator Award, to learn about his passion for gut microbiome research.
May 2nd, 2017 - UPDATED May 4, 2017 // The world's top 10 most expensive drugs are all orphan drugs for rare and ultrarare diseases, according to a new analysis. Leading that pack at number 1 is glycerol phenylbutyrate (Ravicti, Horizon Pharma), an orphan drug ap...