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 +5 more
doaj +2 more sources
Hyperammonemic Encephalopathy due to Underlying Ornithine Transcarbamylase Deficiency [PDF]
Annals of Indian Academy of NeurologyBoby V Maramattom, Priniya Saul
doaj +2 more sources
Ornithine transcarbamylase deficiency: A diagnostic odyssey [PDF]
Journal of Inherited Metabolic Disease, 2022 Knerr, Ina, Cassiman, David
openaire +4 more sources
Ornithine Transcarbamylase Deficiency: If at First You Do Not Diagnose, Try and Try Again [PDF]
Case Reports in Critical Care, 2017 Ornithine transcarbamylase (OTC) deficiency is well known for its diagnosis in the neonatal period. Presentation often occurs after protein feeding and manifests as poor oral intake, vomiting, lethargy progressing to seizure, respiratory difficulty, and ...
Christan D. Santos +4 more
doaj +2 more sources
Acute fulminant encephalopathy in an adult due to ornithine transcarbamylase deficiency [PDF]
Annals of Indian Academy of Neurology, 2022 Vivek K Nambiar +4 more
doaj +2 more sources
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 +15 more
doaj +1 more source
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 +9 more
wiley +1 more source
Aquaporin 9 Induction in Human iPSC-derived Hepatocytes Facilitates Modeling of Ornithine Transcarbamylase Deficiency. [PDF]
, 2022 BACKGROUND & AIMS Patient-derived human induced pluripotent stem cells (hiPSCs) differentiated into hepatocytes (hiPSC-Heps) have facilitated the study of rare genetic liver diseases.
Hsu, Bernadette +10 more
core +1 more source
Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmation. [PDF]
Mol Genet Metab Rep, 2023 Ornithine transcarbamylase (OTC) deficiency (OTCD) is an X-linked urea cycle disorder. In females - undergoing random X chromosomal inactivation (XCI) - disease severity depends on the XCI pattern.
Ramosaj A +3 more
europepmc +2 more sources
Considerations on urea cycle disorders: a child with ornithine transcarbamylase deficiency. [PDF]
Pediatric Anesthesia and Critical Care Journal (PACCJ), 2016 Ornithine transcarbamylase deficiency is the most common inside the group of the urea cycle disorders. Anesthesic management focus on reduce the patient ́s stress along all the surgical process.
M. Bellido +3 more
doaj +1 more source