Results 51 to 60 of about 23,457 (249)

N‐acetylglutamate synthase deficiency with associated 3‐methylglutaconic aciduria: A case report

JIMD Reports, 2022
N‐acetylglutamate synthase (NAGS) deficiency is a rare autosomal recessive disorder, which results in the inability to activate the key urea cycle enzyme, carbamoylphosphate synthetase 1 (CPS1).
Arthavan Selvanathan, Kalliope Demetriou, Matthew Lynch, Michelle Lipke, Carolyn Bursle, Aoife Elliott, Anita Inwood, Leanne Foyn, Brett McWhinney, David Coman, Jim McGill   +10 more
doaj   +1 more source

Semiconducting Polymers Post‐Functionalized With Ureido‐Pyrimidinone for Robust Stretchable Transistors

Advanced Functional Materials, EarlyView.
The design of intrinsically robust stretchable semiconducting polymers was achieved through OTBS‐mediated post‐functionalization of PDPP2T side chains with UPy units, generating dual hydrogen‐bonding motifs comprising weaker urethane linkages and strong quadruple UPy interactions along the long alkyl side chain, which is crucial for achieving desirable
Dinda Bazliah, Livy Laysandra, Kosuke Terayama, Xingyu Yang, Atsushi Isobe, Tai‐Chin Chiang, Tsuyoshi Michinobu, Yu‐Cheng Chiu   +7 more
wiley   +1 more source

Functionalizing Micro‐to‐Mesoscopic Electrode Architectures for Regulating Electron Transfer Behaviors in Electrocatalysis

Advanced Functional Materials, EarlyView.
A systematic review is conducted to assess the influence of electrode architecture across micro‐ to mesoscopic length scales on electron‐transfer pathways in electrocatalysis. We discuss the structure‐activity relationships in electrocatalytic applications, including resource recovery and environmental remediation, and provide cost‐effective, efficient
Manshu Zhao, Jiaojiao Zhang, Shideng Yuan, Xinmeng Yu, Keming Wan, Xiaoguang Duan, Zhining Wang   +6 more
wiley   +1 more source

Clinical and Genetic Characterization and Biochemical Correlation at Presentation in 48 Patients Diagnosed with Urea Cycle Disorders at the Hospital Juan P Garrahan, Argentina

Journal of Inborn Errors of Metabolism and Screening, 2021
The clinical and biochemical findings in a cohort of 51 patients with urea cycle disorders followed at the Hospital Garrahan, Buenos Aires, Argentina were analyzed at the time of diagnosis (3 female patients were excluded). Of this cohort, 13/48 patients
Ana Clara Bernal, Maria Cruz Tubio, Carolina Crespo, Hernán Diego Eiroa   +3 more
doaj   +1 more source

Reconfigurable Au Nanoparticle Monolayers on Regenerated Cellulose Hydrogels: Highly Sensitive SERS Detection of Polystyrene Micro/Nanoplastics With Interpretable Deep Learning

Advanced Functional Materials, EarlyView.
A regenerated cellulose (RC) hydrogel‐based SERS substrate integrating a Marangoni‐transferred gold nanoparticle self‐assembled monolayer (Au‐SAM) is fabricated. Reswelling‐induced hotspot formation enhances polystyrene micro/nanoplastics (PS MNPs) detection in complex matrices, providing reproducible, high‐throughput SERS signals across diverse ...
Youngho Jeon, Yu‐Jin Jeon, Suji Lee, Jeseong Kim, Dae‐Hyun Jung, Jungmok You   +5 more
wiley   +1 more source

Rare‐Earth–Functionalized Carbon Dot Hydrogels as Mechanically Robust Antibacterial Wound Dressings

Advanced Healthcare Materials, EarlyView.
The schematic depicts a dynamically cross‐linked PVA hydrogel network in which reversible borate ester bonds and hydrogen‐bonding interactions integrate lanthanum‐doped carbon dots (La‐CDs) and dipotassium glycyrrhizinate (DPG) to form a mechanically robust, multifunctional matrix.
Shih‐Han Tsai, Ramadhass Keerthika Devi, Muthusankar Ganesan, Guo‐Ping Chang Chien, Chun Che Lin   +4 more
wiley   +1 more source

Mixed‐Metal Promotion in a Manganese‐Molybdenum Oxynitride as Catalyst to Integrate C─C and C─N Coupling Reactions for the Direct Synthesis of Acetonitrile from Syngas and Ammonia

Advanced Materials, EarlyView.
Transition metal oxy/carbo‐nitrides show great promise as catalysts for sustainable processes. A Mn‐Mo mixed‐metal oxynitride attains remarkable performance for the direct synthesis of acetonitrile, an important commodity chemical, via sequential C─N and C─C coupling from syngas (C1) and ammonia (N1) feedstocks.
M. Elena Martínez‐Monje, Wilson Henao, Tania Rodenas, Patricia Concepción, Virginia Pérez Dieste, Alexander Missyul, Giovanni Agostini, Gonzalo Prieto   +7 more
wiley   +1 more source

Hyperargininemia: a rare diagnosis in adulthood

European Journal of Case Reports in Internal Medicine
Background: Hyperargininemia is a rare inherited metabolic disorder of the urea cycle with an autosomal recessive transmission. It occurs due to a deficiency of the enzyme arginase I and causes progressive neurological damage.
Carolina Freitas Henriques, Rui Fernandes, Francisco Barreto, Rubina Miranda, Teresa Carolina Aguiar   +4 more
doaj   +1 more source

Beyond Presumptions: Toward Mechanistic Clarity in Metal‐Free Carbon Catalysts for Electrochemical H2O2 Production via Data Science

Advanced Materials, EarlyView.
Metal‐free carbon catalysts enable the sustainable synthesis of hydrogen peroxide via two‐electron oxygen reduction; however, active site complexity continues to hinder reliable interpretation. This review critiques correlation‐based approaches and highlights the importance of orthogonal experimental designs, standardized catalyst passports ...
Dayu Zhu, Hsi‐wen Wu, Xiao Wang, Jie Zhang   +3 more
wiley   +1 more source

Clinical and genetic analysis of five Chinese patients with urea cycle disorders

Molecular Genetics & Genomic Medicine, 2020
Background The urea cycle plays a key role in preventing the accumulation of toxic nitrogenous waste products, including two essential enzymes: ornithine transcarbamylase (OTC) and argininosuccinate lyase (ASL).
Zhenzhu Zheng, Yiming Lin, Weihua Lin, Lin Zhu, Mengyi Jiang, Wenjun Wang, Qingliu Fu   +6 more
doaj   +1 more source