Results 61 to 70 of about 41,607 (263)

Biochemical markers and neuropsychological functioning in distal urea cycle disorders

, 2018
Urea cycle disorders often present as devastating metabolic conditions, resulting in high mortality and significant neuropsychological damage, despite treatment.
Cederbaum, Stephen, Robert McCarter, Waisbren, Susan E; https://orcid.org/, Amy Holbert, Susan E. Waisbren, Peter Burgard, Stephen Cederbaum, McCarter, Robert, null null, Holbert, Amy, David Cuthbertson, Burgard, Peter, Cuthbertson, David   +12 more
core   +1 more source

Retrospective evaluation of 85 patients with urea cycle disorders: one center experience, three new mutations

, 2020
Objectives: Urea cycle disorders (UCDs) are rare hereditary diseases.
YILDIZ, YILMAZ, TOKATLI, AYŞEGÜL, Nakip, Ozlem Saritas   +2 more
core   +1 more source

Record Performance in Vertically Stacked, Solution‐Processed ZTO Schottky Diodes

Advanced Materials Technologies, EarlyView.
Schottky diodes based on solution processed sustainable zinc—tin–oxide thin films present an eco‐friendly and versatile alternative to conventional CMOS based technologies. Beyond state‐of‐the‐art performance for vertically stacked solution‐based oxide diodes was achieved, including rectification ratios exceeding nine orders of magnitude, and intrinsic
Carlos Silva, Asal Kiazadeh, Raquel Azevedo Martins, António Dias, Jorge Martins, Luís Mendes, João Vaz, Rodrigo Martins, Elvira Fortunato, Emanuel Carlos, Jonas Deuermeier   +10 more
wiley   +1 more source

N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra

Molecular Genetics and Metabolism Reports, 2016
The urea cycle is the main pathway for the disposal of excess nitrogen. Carbamoylphosphate synthetase 1 (CPS1), the first and rate-limiting enzyme of urea cycle, is activated by N-acetylglutamate (NAG), and thus N-acetylglutamate synthase (NAGS) is an ...
Eiman H. Al Kaabi, Ayman W. El-Hattab
doaj   +1 more source

High‐Power Rapid Laser‐Induced Synthesis of Multi‐functional Cobalt Metal‐Organic Framework With an Unprecedented Synthesis Efficiency

Advanced Materials Technologies, EarlyView.
Laser‐assisted synthesis enables rapid (within 1 h) and high‐yield (≥90%) production of Co‐MOFs with mesoporous structures, tunable magnetic and optical properties, and efficient adsorption of N2, CH4, and CO2 for low‐energy gas separation. DFT calculations elucidate the electronic structure and adsorption behavior.
Saliha Mutlu, Bülend Ortaç, Ali Karatutlu, Taylan Gorkan, Engin Durgun, Dilek Soyler, Saniye Soylemez, Jelena Lillepäg, Volkan Filiz, Nergis Arsu, Sevil Savaskan Yilmaz   +10 more
wiley   +1 more source

N, S Co‐Doped Carbon Quantum Dots‐Riboflavin Composite Photosensitizers for Enhanced Iontophoresis‐Assisted Corneal Cross‐Linking

Advanced Science, EarlyView.
This study explores the use of N, S co‐doped carbon quantum dots (NS‐CQDs) as carriers for riboflavin, creating NS‐CQDs‐RF composite photosensitizers. These composites improve riboflavin absorption, enhance ROS generation efficiency, and preserve corneal epithelium integrity.
Tinghong Xu, Yong Liu, Wenjing Zhang, Qiuruo Jiang, Yi Jin, Liangzheng Lin, Lumeng Wang, Zhanhao Gu, Mimi Lin, Shihao Chen   +9 more
wiley   +1 more source

Late‐onset argininosuccinic aciduria in a 72‐year‐old man presenting with fatal hyperammonemia

JIMD Reports, 2021
Argininosuccinate lyase deficiency (ASLD, MIM #207900) is an inherited urea cycle disorder. There are mainly two clinical forms, an acute neonatal form which manifests as life‐threatening hyperammonemia, and a late‐onset form characterised by polymorphic
Laurent Leuger, Xavier Dieu, Juan Manuel Chao de la Barca, Mikael Moriconi, Guillaume Halley, Xavier Donin de Rosière, Pascal Reynier, Delphine Mirebeau‐Prunier, Chadi Homedan   +8 more
doaj   +1 more source

Agnuside Stabilizes the Complex I Assembly Factor NDUFAF6 to Reinforce Mitochondrial Efficiency and Thermogenic Responsiveness

Advanced Science, EarlyView.
ABSTRACT Brown and beige adipocytes dissipate energy as heat, yet effective strategies to enhance their mitochondrial efficiency remain limited. Here, we identify Agnuside (AGN) as a selective stabilizer of the complex I assembly factor NDUFAF6. AGN directly binds cytosolic NDUFAF6, suppresses its ubiquitination, prolongs its half‐life, and facilitates
Qingwen Zhao, Li Xie, Qianzhuo Wang, Shuying Dai, Bei Li, Yingjuan Zhang, Zhe Sun, Yue Gao   +7 more
wiley   +1 more source

Urea cycle disorder

Mental Health Clinician, 2013
Urea cycle disorder is a rare genetic disorder in which there is a full or partial deficiency in the enzymes of the urea cycle, causing a defect in the metabolism of excess nitrogen, and leading to hyperammonemia. This article reviews the clinical presentation, diagnosis, treatment, and drug-disease state implications of urea cycle disorders.
openaire   +1 more source

Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database

Molecular Genetics & Genomic Medicine
Background Ornithine transcarbamylase deficiency (OTCD) due to an X‐linked OTC mutation, is responsible for moderate to severe hyperammonemia (HA) with substantial morbidity and mortality.
Kuntal Sen, Rima Izem, Yuelin Long, Jiji Jiang, Laura L. Konczal, Robert J. McCarter, Members of the Urea Cycle Disorders Consortium (UCDC), Andrea L. Gropman, Jirair K. Bedoyan   +8 more
doaj   +1 more source