Results 71 to 80 of about 3,452,999 (260)

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

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

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

Selective Laser Sintering and Graphitization for Mono‐Matrix Unibody Fabrication of Integrated Stereo‐Circuit and Stereo‐Fluidic Wearable Electronics

Advanced Materials, EarlyView.
A novel selective laser sintering and graphitization (SLSG) 3D printing technology enables unibody fabrication of compacted insulating structures and conductive circuits in fluidic‐integrated wearable electronics through adaptive photonic modulation.
Li Zhang, Wing Cheung Mak
wiley   +1 more source

Urea cycle disorders in Argentine patients: clinical presentation, biochemical and genetic findings

Orphanet Journal of Rare Diseases, 2019
Background The incidence, prevalence, and molecular epidemiology of urea cycle disorders (UCDs) in Argentina remain underexplored. The present study is the first to thoroughly assess the clinical and molecular profiles of UCD patients examined at a ...
Silene M. Silvera-Ruiz, José A. Arranz, Johannes Häberle, Celia J. Angaroni, Miriam Bezard, Norberto Guelbert, Adriana Becerra, Fernanda Peralta, Raquel Dodelson de Kremer, Laura E. Laróvere   +9 more
doaj   +1 more source

Ionic Cocrystal Programming of Spatial Ionic Organization in Carbon Nitrides Enables Highly Efficient H2O2 Photosynthesis

Advanced Materials, EarlyView.
Ionic cocrystal‐programmed ionic organization establishes a general strategy for electrostatic programming in polymeric photocatalysts. ABSTRACT Controlling the spatial organization of ions in polymeric photocatalysts remains a fundamental challenge for optimizing charge transport and catalytic selectivity in solar‐driven hydrogen peroxide (H2O2 ...
Anna Lo Presti, Zahra Hajiahmadi, Sam A. J. Hillman, Mu Xiao, James R. Durrant, Thomas D. Kühne, Christian Mark Pelicano   +6 more
wiley   +1 more source

Pulsed Oxidative–Reductive Electrolysis Over Dual Cu and Co Single‐Atom Sites for Urea Electrosynthesis

Advanced Materials, EarlyView.
Alternating oxidative–reductive pulses synchronize CO2‐derived *CO and NH3‐derived *NHx intermediates over dual Cu and Co single‐atom sites, enabling urea and ethyl urea formation with a total C─N Faradaic efficiency of 42 ± 4%. In situ spectroscopy and theoretical calculations elucidate complementary Cu and Co functions, while oxidative controls ...
Putri Ramadhany, Peiqi Qiu, Thành Trần‐Phú, Denny Gunawan, Bernt Johannessen, Rosalie K. Hocking, Yan Jiao, Rose Amal, Rahman Daiyan   +8 more
wiley   +1 more source

Late onset arginase deficiency presenting with encephalopathy and midbrain hyperintensity

Annals of Indian Academy of Neurology, 2016
Urea cycle disorders (UCD) are very rare metabolic disorders that present with encephalopathy and hyperammonemia. Of the UCDs, Arginase deficiency (ARD) is the rarest and presents in childhood with a progressive spastic diplegia or seizures.
Boby Varkey Maramattom, Rajat Raja, Anuroop Balagopal   +2 more
doaj   +1 more source

Metal Compound‐Based Non‐Enzymatic Electrochemical Cholesterol Sensors: Emerging Materials and Mechanistic Insights

Advanced Materials Interfaces, EarlyView.
This review discusses recent progress in metal complex‐based, non‐enzymatic electrochemical sensors for cholesterol detection. We examine metal oxides, metal sulfides, and hybrid nanomaterials, highlighting their catalytic mechanisms and material design strategies.
Longfei (Jack) Yin, Chao‐Tsen (Rora) Chen, Jacopo Giaretta, Thanh‐Qua Nguyen, Hoang‐Phuong Phan, Fariba Dehghani, Syamak Farajikhah   +6 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