Results 111 to 120 of about 2,310,068 (246)

Unraveling the Link: Seizure Characteristics and Ammonia Levels in Urea Cycle Disorder During Hyperammonemic Crises

Background: This retrospective clinical study performed at a single clinical center aimed to identify the prevalence of seizures in individuals with urea cycle disorders (UCDs) with and without hyperammonemic (HA) crises.
Ah Mew, Nicholas, Urea Cycle Disease Consortium, Chanvanichtrakool, Mongkol, Schreiber, John M, Chen, Wei-Liang, Wilkening, Greta, Barber, John, Nagamani, Sandesh C S, Schulze, Andreas, Gropman, Andrea, Zhang, Anqing   +10 more
core   +1 more source

Neuropsychiatric manifestations in Late-Onset urea cycle disorder patients

, 2010
Inherited urea cycle disorders represent one of the most common groups of inborn errors of metabolism. Late-onset urea cycle disorders caused by partial enzyme deficiencies may present with unexpected clinical phenotypes. We report 9 patients followed up
Gómez-López, L, Fons, C, Arranz, J A, Artuch, R, Häberle, J, Briones, P, Murgui, E, Serrano, M, Jara, F, Vilaseca, M A, Campistol, J, Pérez-Dueñas, B, García-Cazorla, A, Pineda, M   +13 more
core   +1 more source

Electrochemically Driven Regioselective Radical Functionalization of Allenes: Scope and Mechanistic Insights

Advanced Science, EarlyView.
Allenes emerge as powerful platforms for electrochemical functionalization through radical pathways. Selective radical addition at the central carbon triggers anodic oxidation and intramolecular cyclization, enabling efficient synthesis of oxazolines and oxazolidine‐2‐imines without external oxidants.
Pranjal Pyne, Prateek Saini, Rohel Hoque, Shivam Pandey, Srinivasan Ramakrishnan, Chandra M. R. Volla   +5 more
wiley   +1 more source

Reduced bioavailable manganese causes striatal urea cycle pathology in Huntington\u27s disease mouse model

, 2017
Huntington\u27s disease (HD) is caused by a mutation in the huntingtin gene (HIT), resulting in profound striatal neurodegeneration through an unknown mechanism.
Stubbs, Andrew D., Halbesma, Timothy, Andrew D. Stubbs, Hunter K. Holt, K. Grace Tipps, Alexander Osmand, Kwakye, Gunnar F., Bradley, Emma M., Miles Bryan, Karrie Dudek, Umashanker, Preethi, Gunnar F. Kwakye, Fisher, Nicole, Terry Jo V. Bichell, Bryan, Miles, Michal Wegrzynowicz, Andrew M. Tidball, Uhouse, Michael A., Dudek, Karrie, Tipps, K. Grace, Bichell, Terry Jo, Preethi Umashanker, Aschner, Michael, Michael A. Uhouse, Bowman, Aaron B., M. Diana Neely, Colbran, Roger J., Michael Aschner, Emma M. Bradley, Horning, Kyle, Holt, Hunter K., Kyle Horning, Aaron B. Bowman, Tidball, Andrew M., Timothy Halbesma, Alba Di Pardo, Vittorio Maglione, Neely, M. Diana, Roger J. Colbran, Nicole Fisher, Wegrzynowicz, Michal   +40 more
core   +1 more source

A Rare De Novo Missense Mutation in IFT122 Confers a Genetic Susceptibility Factor of Idiopathic Pediatric Uveitis Via Trio‐based Whole‐Exome Sequencing

Advanced Science, EarlyView.
A rare de novo IFT122‐A773E variant is identified in idiopathic pediatric uveitis and shown to exacerbate retinal inflammation and barrier dysfunction. Mechanistically, the variant enhances IFT43 interaction, elevates calcium signaling, and activates the MEK/ERK/FRA1 axis, revealing a previously unrecognized cilia‐associated pathway that may increase ...
Qian Zhou, Jiaxing Huang, Yilin Wang, Xingran Li, Xianyang Liu, Lingyu Dai, Hongshun Li, Qingfeng Wang, Jiangyi Liu, Guannan Su, Wanyun Zhang, Yang Deng, Qingfeng Cao, Yujie Lai, Xiang Luo, Changwei Huang, Ling Chen, Shengping Hou, Peizeng Yang   +18 more
wiley   +1 more source

Urea cycle defects: management and outcome.

, 2005
This paper reviews the clinical presentation of 217 patients with urea cycle defects, including 121 patients with neonatal-onset forms and 96 patients with late-onset forms.
Héron, B., Nassogne, Marie-Cécile, Rabier, D., Saudubray, J M, Touati, G   +4 more
core   +1 more source

Blood Cell‐Camouflaged Liquid Metal Nanoconjugates Orchestrate Treg Depletion and STING‐Amplified Photothermal Immunity for Metastatic Triple‐Negative Breast Cancer Therapy

Advanced Science, EarlyView.
Whole‐blood biomimetic engineering transforms liquid metal nanoparticles into a tripartite immunotherapeutic platform that orchestrates regulatory T‐cell depletion, photothermal‐induced immunogenic cell death, and activation of the stimulator of interferon genes pathway.
Nina Sang, Eijiro Miyako
wiley   +1 more source

Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders [PDF]

Purpose: Liver transplantation (LTx) is performed in individuals with urea cycle disorders when medical management (MM) insufficiently prevents the occurrence of hyperammonemic events.
Urea Cycle Disorders Consortium (UCDC), European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group, Metabole ziekten patientenzorg, Child Health, Infection & Immunity   +4 more
core  

Estudio de varíos niveles de nitrógeno aplicados con briquetas de urea, en el cultivo de arroz en secano con siembra mecanizada en la zona de lomas de sargentillo [PDF]

, 2011
El estudio se basó en la aplicación de varios niveles de Nitrógeno utilizando la tecnología APBU (Aplicación Profunda de Briquetas de Urea), con el propósito de incrementar la eficiencia y efectividad del Nitrógeno contenido en la Urea.
Franco Plaza, Felipe Renán, Espinosa Luna, Marcelo   +1 more
core  

The two major pathways metabolizing ammonia: the urea cycle (periportal), and glutamine synthesis (pericentral).

, 2014
In the urea cycle: ammonia and bicarbonate form carbamoylphosphate via carbamoyl phosphate synthetase1 (CPS1). This reaction requires N-acetylglutamate (acquired via a reaction catalysed by N-acetylglutamate synthase (NAGS)), Mg2+ and MgATP ...
Giora van Straten (580550), Frank C. P. Holstege (117137), Robert P. Favier (144780), Marian J. A. Groot Koerkamp (117136), Frank G. van Steenbeek (194928), Hille Fieten (144796), Ingrid H. van Gils (580551), Guy C. M. Grinwis (165277), Bart Spee (66184), Jan Rothuizen (66188), Anne Kummeling (381713)   +10 more
core   +1 more source