Results 61 to 70 of about 4,798 (243)

Keratopathy In Tyrosinemia Type I

Paula Alonso Barreiros, Martín Puchol Rizo, Daniel Munck Sánchez, Beatriz Alonso Martín, Luis Alcalde Blanco   +4 more
openaire   +2 more sources

Nature Inspired Delivery Vehicles for CRISPR‐Based Genome Editing

Small, Volume 22, Issue 16, 17 March 2026.
The review highlights nature‐inspired nanocarriers for CRISPR delivery, emphasizing viral vectors, extracellular vesicles, liposomes, and lipid nanoparticles. It discusses their roles in improving specificity, minimizing immunogenicity, and overcoming barriers in genome editing. Recent advancements, challenges, and therapeutic applications are explored,
Elizabeth Maria Clarissa, Mamata Karmacharya, Hyunmin Choi, Sumit Kumar, Yoon‐Kyoung Cho   +4 more
wiley   +1 more source

Clinical Features of 29 Patients with Hereditary Tyrosinemia I in Western Turkey

Journal of Pediatric Research, 2018
Aim:The aim of this study was to investigate the long-term outcome of hereditary tyrosinemia Type I (HTI) patients treated with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) to increase knowledge about the clinical outcome in these ...
Havva Yazıcı, Esra Er, Ebru Canda, Sara Habif, Sema Kalkan Uçar, Mahmut Çoker   +5 more
doaj   +1 more source

Choosing a pediatric recipient for orthotopic liver transplantation [PDF]

, 1987
Between March 3, 1981, and June 1, 1984, 216 children were evaluated for orthotopic liver transplantation. Of the 216 patients, 117 (55%) had recelved at least one liver transplant by June 1, 1985. Fifty-five (25%) died before transplantation.
Andrew H. Urbach, Atkin, Basil J. Zitelli, Borel, Byar, Byar, Byers W. Shaw, Cox, Cutler, Daniel J. Schaid, Fallon, Gartner, Gartner, Gartner, Gordon, Houssin, Howard Rockette, J. Carlton Gartner, J. Jeffrey Malatack, John Fischer, Lachin, Lee, Mantel, National Institutes of Health Consensus Development Conference statement, Perrin, Sabbeth, Shaw, Shunzaburo Iwatsuki, Starzl, Starzl, Thomas E. Starzl, Zitelli   +31 more
core   +1 more source

HPD is an m6A Methyltransferase that Protects Colorectal Cancer Cells from Ferroptotic Cell Death by m6A Methylating SLC7A11/GPX4

Advanced Science, Volume 13, Issue 9, 13 February 2026.
This study reveals that the tyrosine metabolic enzyme HPD functions as a previously uncharacterized, METTL3‐independent m6A methyltransferase. It promotes colorectal tumor progression by coordinately regulating the SLC7A11/GPX4 axis to suppress ferroptosis.
Jiyan Wang, Xintong Dai, Huanle Liu, Saiwei Hua, Hongkai Chang, Huanran Sun, Mingming Sun, Huifang Zhao, Kemin Ni, Fei Xie, Yaya Qiao, Qingle Gao, Chenxi Yu, Qijun Zhang, Jianshuang Guo, Chunze Zhang, Shuai Zhang, Changliang Shan   +17 more
wiley   +1 more source

Dysregulated Choline, Methionine, and Aromatic Amino Acid Metabolism in Patients with Wilson Disease: Exploratory Metabolomic Profiling and Implications for Hepatic and Neurologic Phenotypes. [PDF]

, 2019
Wilson disease (WD) is a genetic copper overload condition characterized by hepatic and neuropsychiatric symptoms with a not well-understood pathogenesis.
Czlonkowska, Anna, Kim, Kyoungmi, Litwin, Tomasz, Mazi, Tagreed A, Medici, Valentina, Sarode, Gaurav V, Shibata, Noreene M   +6 more
core   +2 more sources

Photoacoustic Microscopy for Multiscale Biological System Visualization and Clinical Translation

Advanced Science, Volume 13, Issue 9, 13 February 2026.
Photoacoustic microscopy (PAM) is a powerful biomedical imaging tool renowned for its non‐invasiveness and high resolution. This review synthesizes recent technological advances and highlights their broad applications from cellular and organ‐level to whole‐animal imaging.
Tingting Wang, Jiali Chen, Liming Nie, Honghui Li   +3 more
wiley   +1 more source

From Control to Optimisation: Evolving Strategies in the Nutritional Management of Inborn Errors of Protein Metabolism

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Undoubtedly the nutritional management of inborn errors of protein metabolism (IEPM) has improved since the early 1950s, but it is still associated with significant patient burden. The pace of development has not kept up with the increasing demands of the ‘real world’ or development in other areas of medicine. It is essential that research and
Júlio César Rocha, Anne Daly, Anita MacDonald   +2 more
wiley   +1 more source

Genome editing with Cas9 in adult mice corrects a disease mutation and phenotype [PDF]

, 2013
We demonstrate CRISPR-Cas9–mediated correction of a Fah mutation in hepatocytes in a mouse model of the human disease hereditary tyrosinemia. Delivery of components of the CRISPR-Cas9 system by hydrodynamic injection resulted in initial expression of the
Anderson, Daniel Griffith, Benedetti, Eric, Bogorad, Roman, Chen, Sidi, Grompe, Markus, Jacks, Tyler E, Kotelianski, Victor E., Sharp, Phillip A., Xue, Wen, Yin, Hao   +9 more
core   +1 more source

Lipid Nanoparticles for Delivery of CRISPR Gene Editing Components

Small Methods, Volume 10, Issue 2, 22 January 2026.
The review presents a comprehensive overview of each component of lipid nanoparticles（LNPs）and their effects on editing efficiency. It specifically highlights strategies for achieving non‐liver delivery, aiming for broader applications in gene editing. Furthermore, this review summarizes the applications of LNPs in gene editing and offers insights for ...
Fan Wu, Nei Li, Yudian Xiao, Rohan Palanki, Hannah Yamagata, Michael J. Mitchell, Xuexiang Han   +6 more
wiley   +1 more source