Results 61 to 70 of about 23,457 (249)

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

Metal–Organic Framework‐Preserved Thermostable Microneedle Patch for Minimally Invasive Detection and Monitoring of Kidney Dysfunction

Advanced Materials, EarlyView.
By growing a conformal ZIF‐8 protective layer directly on antibody‐functionalized microneedles, this work converts a fragile biosensing interface into a thermostable diagnostic platform. The MOF@MN patch enables minimally invasive NGAL detection from dermal ISF while supporting cold‐chain‐independent storage and transport for decentralized kidney ...
Yixuan Wang, Ying Liu, Avishek Debnath, Chuang Li, Zheyu Wang, Gayathri Kondepati, Saketh Balmoori, Jeremiah J. Morrissey, Ying Maggie Chen, Limei Tian, Srikanth Singamaneni   +10 more
wiley   +1 more source

Citrullinemia type I and hypertrophic pyloric stenosis in a 1-month old male infant

Clinics and Practice, 2013
Citrullinemia type I (CTLN1) is an inherited urea cycle disorder, now included in most newborn screening panels in the US and Europe. Due to argininosuccinate synthetase deficiency, CTLN1 can lead to recurrent hyperammonemic crisis that may result in ...
Yoona Rhee, Todd Heaton, Catherine Keegan, Ayesha Ahmad   +3 more
doaj   +1 more source

Sustainable Poly(Lactic Acid)/Graphene Oxide Bioelectronic Platform for Neurotransmitters Sensing and Tunable Stimulation of Astrocytes

Advanced Materials, EarlyView.
This work introduces sustainable PLA/graphene oxide bioelectronic interfaces featuring electrodes with tunable conductivity and strong electrocatalytic performance. These platforms were used to implement a new method for tuning astrocyte Ca2+ signaling and for the efficient detection of key biomarkers.
Alessandra Scidà, Giulia Cazzador, Roberta Fabbri, Matteo Calosi, Alessandro Silvestri, Andrea Candini, Fabiola Liscio, Franco Corticelli, Aikaterini Konstantoulaki, Andrea D'Iorio, Marco Caprini, Vincenzo Palermo, Monica Bertoldo, Valentina Benfenati, Chiara Zanardi, Emanuele Treossi   +15 more
wiley   +1 more source

N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment

The Application of Clinical Genetics, 2011
Nicholas Ah Mew, Ljubica CaldovicCenter for Genetic Medicine Research, Children’s Research Institute, Children’s National Medical Center, Washington DC, USAAbstract: The conversion of ammonia into urea by the human liver requires the ...
Caldovic L, Ah Mew N
doaj  

Electroactive 3D Porous Graphene Foam Impedimetric Biosensor for Ultrasensitive Detection of MCF‐7‐Cells‐Derived Extracellular Vesicles in Human Serum

Advanced Materials Technologies, EarlyView.
A label‐free impedimetric biosensor based on electroactive 3D porous graphene foam enables ultrasensitive and selective detection of CD81 protein and MCF‐7 cell‐derived extracellular vesicles in human serum. Detection limits of 0.048 fg/mL for CD81 and ∼24 EVs/mL are achieved, demonstrating a robust platform for selective, label‐free, and ...
Michael Robert Furness, Ashish Kalkal, Tia Wardlaw, Jessica Valli, Suresh Chandra Baral, Pablo Lozano Sanchez, Marco Caffio, Sudhagar Pitchaimuthu, Olga Oikonomidou, Jason Webber, Nick R. Leslie, Anitha Devadoss   +11 more
wiley   +1 more source

Nature‐Derived Chitosan Biopolymer: A Promising Candidate for Sustainable Electronics

Advanced Materials Technologies, EarlyView.
In the creation of environmentally friendly devices, nature‐derived chitosan biopolymer is a promising contender for sustainable electronic research. It can be utilized to create more ecologically friendly scalable gadgets and has a variety of uses in different active layers of electronics.
Joshua McDonald, Ali Nawaz, Amandeep Singh, Prashant Sonar   +3 more
wiley   +1 more source

UCST‐Driven Shape Morphing in Digital Light Processing 4D‐Printed Hydrogels

Advanced Materials Technologies, EarlyView.
A DLP‐printable UCST hydrogel based on poly(acrylic acid‐co‐acrylamide) enables reversible thermally induced expansion and 4D shape morphing. Rational control of composition, porosity, and multimaterial architecture enables predictable 4D shape morphing through differential swelling and localized actuation, opening new opportunities for high‐resolution
Fato Niang, Vincent Lapinte, Sebastien Blanquer   +2 more
wiley   +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

Mr BMT Achieves Systemic Macrophage Replacement With Preservation of Tissue Homeostasis

Advanced Science, EarlyView.
Microglia replacement by bone marrow transplantation (Mr BMT) enables systemic replacement of tissue‐resident macrophages. Despite persistent macrophage and tissue remodeling across multiple organs, core biological functions and innate immune responses remain preserved, supporting long‐term maintenance of organismal homeostasis and the therapeutic ...
Yufei Xu, Miaozhan Zou, Yunshang Bai, Yang He, Zhihao Jin, Baozhi Yang, Jinjin Du, Pei Ouyang, Yuanyuan Cai, Yuheng Zhang, Bingying Du, Chengcheng Ge, Jian‐an Gong, Xiaoyu Li, Yuanyi Zheng, Jing Ding, Bo Peng, Yanxia Rao   +17 more
wiley   +1 more source