Results 81 to 90 of about 2,734,131 (399)

Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation

Molecular Genetics and Metabolism Reports, 2016
The Congenital Disorders of Glycosylation (CDG) are an expanding group of genetic disorders which encompass a spectrum of glycosylation defects of protein and lipids, including N- & O-linked defects and among the latter are the muscular ...
Wendy E. Heywood, Emily Bliss, Philippa Mills, Jale Yuzugulen, Gabriela Carreno, Peter T. Clayton, Francesco Muntoni, Viki C. Worthington, Silvia Torelli, Neil J. Sebire, Kevin Mills, Stephanie Grunewald   +11 more
doaj   +1 more source

The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group [PDF]

, 2016
There are few centres which specialise in the care of adults with inborn errors of metabolism (IEM). To anticipate facilities and staffing needed at these centres, it is of interest to know the distribution of the different ...
Ben Omran, T, Glamuzina, E, Hollak, C, Janssen, M. C, Lachmann, R, Langendonk, J, Merkel, M, Mochel, F, SCARPELLI, Mauro, Sechi, A, Sirrs, S, Tchan, M. C.   +11 more
core   +1 more source

Automated Screening for Three Inborn Metabolic Disorders: A Pilot Study [PDF]

, 2006
Background: Inborn metabolic disorders (IMDs) form a large group of rare, but often serious, metabolic disorders. Aims: Our objective was to construct a decision tree, based on classification algorithm for the data on three metabolic disorders, enabling ...
N Rao, Ananth, S N, Sarbadhikari, S, Kavitha   +2 more
core   +1 more source

Global organization of metabolic fluxes in the bacterium, Escherichia coli [PDF]

Nature 427, 839-843 (2004), 2004
Cellular metabolism, the integrated interconversion of thousands of metabolic substrates through enzyme-catalyzed biochemical reactions, is the most investigated complex intercellular web of molecular interactions. While the topological organization of individual reactions into metabolic networks is increasingly well understood, the principles ...
arxiv   +1 more source

Materials Advances in Devices for Heart Disease Interventions

Advanced Materials, EarlyView.
This review examines the crucial role of materials in heart disease interventions, focusing on strategies for monitoring, managing, and repairing heart conditions. It discusses the material requirements for medical devices, highlighting recent innovations and their impact on cardiovascular health.
Gagan K. Jalandhra, Lauryn Srethbhakdi, James Davies, Chi Cong Nguyen, Phuoc Thien Phan, Zachary Och, Aditya Ashok, Khoon S. Lim, Hoang‐Phuong Phan, Thanh Nho Do, Nigel H. Lovell, Jelena Rnjak‐Kovacina   +11 more
wiley   +1 more source

Nutrition process improvements for adult inpatients with inborn errors of metabolism using the i-PARIHS framework [PDF]

, 2019
This project aimed to implement consensus recommendations and innovations that improve dietetic services to promote timely referral to optimise nutritional management for adult inpatients with inborn errors of metabolism (IEM).The i-PARIHS framework was ...
Mcgill, Jim, Nisbet, Janelle, van der Meij, Barbara S., Wilkinson, Shelley A., Williams, Clare   +4 more
core   +1 more source

Transcriptomic Profiling Unveils EDN3+ Meningeal Fibroblasts as Key Players in Sturge‐Weber Syndrome Pathogenesis

Advanced Science, EarlyView.
Sturge‐Weber syndrome (SWS) is characterized by leptomeningeal vascular malformations, leading to seizures and stroke. Analysis of 119 446 brain cells from SWS patients uncovered distinct cell heterogeneity and identified an EDN3⁺ meningeal fibroblast cluster, with WNT5A emerging as a potential key driver of SWS progression and a promising therapeutic ...
Daosheng Ai, Tianyue Ming, Xiaoli Li, Shu Wang, Zhanying Bi, Jinyi Zuo, Zizhang Cheng, Weijin Sun, Mingguo Xie, Fengzhi Li, Xiongfei Wang, Xueling Qi, Guoming Luan, Woo‐ping Ge, Yuguang Guan   +14 more
wiley   +1 more source

Perceived stress in patients with inflammatory and non‐inflammatory skin conditions. An observational controlled study among 255 Norwegian dermatological outpatients

Skin Health and Disease, Volume 2, Issue 4, December 2022., 2022
Abstract Background Inflammation may increase stress, while stress may promote inflammation. Most dermatological conditions are chronic and inflammatory, while some, such as cancer, naevi and tumours are non‐inflammatory, but may cause stress because of the fear of malignancy and the necessity for surgical and other invasive treatments.
Flora Balieva, Christina Schut, Jörg Kupfer, Lars Lien, Laurent Misery, Francesca Sampogna, Love von Euler, Florence J. Dalgard   +7 more
wiley   +1 more source

Nanotherapy for Neural Retinal Regeneration

Advanced Science, EarlyView.
Nanotechnology enhances ophthalmic treatments by improving drug delivery and regenerating ocular tissues, combating vision loss from retinal diseases through innovative nano‐systems. This review outlines ocular anatomy, pathology, immune microenvironment, and barriers, detailing nanocarrier characteristics, classification, and preparation methods, and ...
Chuyao Yu, Li Dong, Yujia Lv, Xuhan Shi, Ruiheng Zhang, Wenda Zhou, Haotian Wu, Heyan Li, Yitong Li, Zhou Li, Dan Luo, Wen‐Bin Wei   +11 more
wiley   +1 more source

Relative importance of genotype, gene expression, and DNA methylation on complex traits in perennial ryegrass

The Plant Genome, Volume 15, Issue 4, December 2022., 2022
Abstract The growing demand for food and feed crops in the world because of growing population and more extreme weather events requires high‐yielding and resilient crops. Many agriculturally important traits are polygenic, controlled by multiple regulatory layers, and with a strong interaction with the environment.
Marta Malinowska, Anja Karine Ruud, Just Jensen, Simon Fiil Svane, Abraham George Smith, Andrea Bellucci, Ingo Lenk, Istvan Nagy, Mattia Fois, Thomas Didion, Kristian Thorup‐Kristensen, Christian Sig Jensen, Torben Asp   +12 more
wiley   +1 more source