Results 91 to 100 of about 51,297 (232)

Safety considerations of gene‐based therapies for Alzheimer's disease

Alzheimer's &Dementia, Volume 22, Issue 7, July 2026.
Abstract Gene‐based therapies show increasing promise for the treatment of neurologic disease. In 2016, nusinersen, an RNA‐based therapy, was approved for children with spinal muscular atrophy (SMA). Over 200 clinical trials have utilized gene therapy approaches for a host of neurodegenerative and neuromuscular disorders, including Alzheimer's disease (
Elizabeth A. Bevins, Gabriel C. Léger, Michelle A. Herman, John M. Ringman, Subhojit Roy, Matthew Shtrahman, Judy Pa, Howard H. Feldman   +7 more
wiley   +1 more source

Posterior fossa syndrome in a patient with an ornithine transcarbamylase deficiency

, 2015
The posterior fossa syndrome (PFS) is a well-known clinical entity and mainly occurs in children. Ornithine transcarbamylase deficiency (OTC) is the most common urea cycle disorder, which occurs in an estimated 1 per 50.000 live births in Japan. Symptoms
De Klerk, H., Catsman-Berrevoets, C. E., Van Den Hout, J., de Klerk, H, Nedermeijer, S. C M, Geleijns, C., van den Hout, J, Geleijns, C, Catsman-Berrevoets, C E, Nedermeijer, S C M   +9 more
core   +1 more source

infection in a patient with ornithine transcarbamylase deficiency and liver transplant

, 2021
Rapidly growing mycobacteria, including Mycobacterium abscessus, have become a common cause of post-procedural infections and are notoriously difficult to diagnose and treat.
Fabrizio V. Galimberti, Yumeng M. Li, Desai, Karishma, Karishma Desai, Li, Yumeng M, Galimberti, Fabrizio V, Saad, Ali G, Ali G. Saad   +7 more
core   +1 more source

Hiding in Plain Sight: A Case of Ornithine Transcarbamylase Deficiency Unmasked Post–Liver Transplantation

American Journal of Transplantation, 2017
Ornithine transcarbamylase deficiency represents the most common inherited defect of the urea cycle. This enzyme, predominantly found in the liver, plays a crucial role in recycling free ammonia, with deficiencies often leading to fatal complications ...
M. Ramanathan, S. Uppalapu, N. Patel
semanticscholar   +1 more source

Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross‐Border Surveillance in Germany, Austria, and Switzerland

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Arginase 1 deficiency (ARG1‐D) is an ultra‐rare urea cycle disorder characterized by progressive spastic paraplegia, developmental delay, epilepsy, and episodic hyperammonemia. Evidence on prevalence and clinical presentation is scarce. Therefore, epidemiology and the phenotypical spectrum were assessed in Germany, Austria, and Switzerland ...
Svenja Scharre, Annette L. Hess, Florian Gleich, Sven F. Garbade, Patrik Feyh, Daniela Karall, Anna Baghdasaryan, Martina Huemer, Julia B. Hennermann, Andreas Hahn, Martin Lindner, Gwendolyn Gramer, Thomas Luecke, Nils Kleinelanghorst, Johannes Haeberle, Amelie S. Lotz‐Havla, Georg F. Hoffmann, Juergen G. Okun, Ulrike Muetze, Stefan Kölker   +19 more
wiley   +1 more source

Chicken Ornithine Transcarbamylase: Purification and Some Properties

, 1983
Ornithine transcarbamylase [EC 2.1.3.3] has been purified from chick kidney to homogeneity. The molecular weight is 110,000 as determined by gel filtration.
Soichi Tsuji
core  

Cryptogenic hepatitis masking the diagnosis of ornithine transcarbamylase deficiency

, 1996
We describe three children with transaminase elevations and hepatic insufficiency who were given the diagnosis of cryptogenic hepatitis after the more common viral and metabolic diseases of the liver had been excluded.
Donati M. A., Filippi L., Resti M., Zammarchi E.   +3 more
core   +1 more source

Liver Cancer in Methylmalonic and Propionic Acidemias: A Rare Complication? A Clinico‐Pathological Study of 24 Livers

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT In methylmalonic (MMA) and propionic acidemias (PA), liver or liver‐kidney transplantation (Tx) is indicated for metabolic decompensations, kidney failure (MMA), and to improve quality of life. Liver cancer was reported in five patients with MMA.
Léa Zloty, Mouna Aoun, Carmen Capito, Anaïs Brassier, Guillaume Morcrette, Ugo Cucinotta, Laurène Dehoux, Claire Mayer, Jean‐Paul Duong Van Huynh, Apolline Imbard, Jean‐François Benoist, Christophe Chardot, Manuel Schiff, Pascale de Lonlay, Monique Fabre, Florence Lacaille   +15 more
wiley   +1 more source

A comparative study on arginine metabolism by oral streptococci revealed both divergence and heterogeneity in dependence on arginine and significance of ornithine and citrulline

Journal of Oral Microbiology
Background Current understanding in arginine metabolism by streptococci is limited in species and strains.Objectives We compared the ability of several abundant oral streptococci to synthesize and assimilate arginine.Design Multiple species of oral ...
Lin Zeng
doaj   +1 more source

Mutational spectrum and linkage disequilibrium patterns at the ornithine transcarbamylase gene (OTC)

, 2006
Ornithine transcarbamylase (OTC; EC 2.1.3.3) is a hepatic enzyme involved in ammonia elimination via the urea cycle. Since the sequence of the OTC gene was reported many types of mutations continue to be found in OTC deficiency patients, continuing to ...
Diogo, L, Cenni, B, Soares, P A, Teles, E L, Wermuth, B, Azevedo, L, Martins, E, Vilarinho, L, Amorim, A, Quental, R, Garcia, P   +10 more
core   +1 more source