Results 21 to 30 of about 51,297 (232)

Hyperammonaemic Encephalopathy Caused by Adult-Onset Ornithine Transcarbamylase Deficiency [PDF]

Brain Sciences, 2022
Hyperammonaemic encephalopathy in adults is a rare condition in the absence of liver disease and is associated with a high mortality and risk of permanent neurological deficits.
Bjarke Hammer Niclasen, Maria Therese Schelde-Olesen, Mads Astvad, Anders Løkke, Thomas Krøigård, Helle H. Nielsen   +5 more
doaj   +2 more sources

Effect of Ornithine Transcarbamylase (OTC) Deficiency on Pregnancy and Puerperium

Diagnostics, 2022
Ornithine transcarbamylase (OTC) deficiency is the most common inherited metabolic disorder in urea cycles with an incidence of 1:14,000 live births.
Rastislav Sysák, Katarína Brennerová, Romana Krlín, Peter Štencl, Igor Rusňák, Mária Vargová   +5 more
doaj   +2 more sources

Hyperammonemic Coma in an Adult due to Ornithine Transcarbamylase Deficiency [PDF]

Case Reports in Critical Care, 2013
Objective. To report an unusual cause of coma in an adult. Design. Case report. Setting. University teaching hospital. Patient. A previously healthy 53-year-old man initially presented with altered mental status and progressed to coma. He was found to be
Daniel L. Roberts, David A. Galbreath, Bhavesh M. Patel, Timothy J. Ingall, Amer Khatib, Daniel J. Johnson   +5 more
doaj   +2 more sources

Metabolic mimicry of perioral myoclonia with absences: A signature of thalamocortical instability in childhood-onset ornithine transcarbamylase deficiency. [PDF]

Epileptic Disord
Epileptic Disorders, Volume 28, Issue 5, Page 1698-1700, October 2026.
Bragatti JA, Grigoletto L.
europepmc   +2 more sources

Hyperammonemic Encephalopathy due to Underlying Ornithine Transcarbamylase Deficiency [PDF]

Annals of Indian Academy of Neurology
Boby V Maramattom, Priniya Saul
doaj   +2 more sources

Prednisolone reduces the interferon response to AAV in cynomolgus macaques and may increase liver gene expression

Molecular Therapy: Methods & Clinical Development, 2022
Ornithine transcarbamylase deficiency is a rare X-linked genetic urea cycle disorder leading to episodes of acute hyperammonemia, adverse cognitive and neurological effects, hospitalizations, and in some cases death.
Lili Wang, Claude C. Warzecha, Alexander Kistner, Jessica A. Chichester, Peter Bell, Elizabeth L. Buza, Zhenning He, M. Betina Pampena, Julien Couthouis, Sunjay Sethi, Kathleen McKeever, Michael R. Betts, Emil Kakkis, James M. Wilson, Samuel Wadsworth, Barbara A. Sullivan   +15 more
doaj   +1 more source

AIF1+CSF1R+ MSCs, induced by TNF‐α, act to generate an inflammatory microenvironment and promote hepatocarcinogenesis

Hepatology, EarlyView., 2022
Mesenchymal stem cells subset, educated by TNF‐α, are involved to generate inflammatory microenvironment and promote hepatocarcinogenesis Abstract Background and Aims Increasing evidence suggests that mesenchymal stem cells (MSCs) home to injured local tissues and the tumor microenvironment in the liver.
Chen Zong, Yan Meng, Fei Ye, Xue Yang, Rong Li, Jinghua Jiang, Qiudong Zhao, Lu Gao, Zhipeng Han, Lixin Wei   +9 more
wiley   +1 more source

New insight into the transcarbamylase family: the structure of putrescine transcarbamylase, a key catalyst for fermentative utilization of agmatine. [PDF]

PLoS ONE, 2012
Transcarbamylases reversibly transfer a carbamyl group from carbamylphosphate (CP) to an amine. Although aspartate transcarbamylase and ornithine transcarbamylase (OTC) are well characterized, little was known about putrescine transcarbamylase (PTC), the
Luis Mariano Polo, Fernando Gil-Ortiz, Angel Cantín, Vicente Rubio   +3 more
doaj   +1 more source

Aquaporin 9 induction in human iPSC-derived hepatocytes facilitates modeling of ornithine transcarbamylase deficiency

Hepatology, 2021
Patient‐derived human‐induced pluripotent stem cells (hiPSCs) differentiated into hepatocytes (hiPSC‐Heps) have facilitated the study of rare genetic liver diseases.
Alexander Laemmle, M. Poms, Bernadette Y. Hsu, Mariia Borsuk, V. Rüfenacht, Joshua F. Robinson, M. Sadowski, J. Nuoffer, J. Häberle, H. Willenbring   +9 more
semanticscholar   +1 more source

Safety and efficacy of an engineered hepatotropic AAV gene therapy for ornithine transcarbamylase deficiency in cynomolgus monkeys

Molecular Therapy: Methods & Clinical Development, 2021
X-linked inherited ornithine transcarbamylase deficiency (OTCD) is the most common disorder affecting the liver-based urea cycle, a pathway enabling detoxification of nitrogen waste and endogenous arginine biosynthesis.
J. Baruteau, S. Cunningham, B. Yilmaz, D. Perocheau, S. Eaglestone, D. Burke, A. Thrasher, S. Waddington, L. Lisowski, I. Alexander, P. Gissen   +10 more
semanticscholar   +1 more source