Results 31 to 40 of about 326 (172)

Richner-Hanhart Syndrome (Tyrosinemia Type II) A Case Report of Delay Diagnosis with Hyperkeratotic Lesions of Palmes and Soles

پزشکی بالینی ابن سینا, 2014
Introduction: Richner-Hanhart syndrome (tyrosinemia type II) is a rare autosomal recessive disease associated with high serum tyrosine levels caused by the deficiency of tyrosine ami-notransferase enzyme.
Zahra Alian
doaj  

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

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

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

Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls [PDF]

, 2016
Development Psychopathology in context: clinical ...
Cassiman, D., Daly, A., De Laet, C., Eyskens, F., Goyens, P.J., Huijbregts, S.C.J., Jahja, R., Korver-Keularts, I.M.L.W., MacDonald, A., McKiernan, P.J., Van Ginkel, W.G., Van Spronsen, F.J.   +11 more
core   +2 more sources

Soluble CD163 as a Biomarker of Liver Fibrosis and Inflammation in Liver Transplant Recipients

Clinical Transplantation, Volume 40, Issue 2, February 2026.
ABSTRACT Background and Aims Post liver transplantation (LT) inflammation and fibrosis are clinical challenges that may affect long‐term outcomes. We aimed to investigate sCD163 as a biomarker of liver fibrosis in LT recipients and compare it with the Fibrosis 4 (FIB‐4) score and FibroScan.
Emilie Høegholm Ernst Lauridsen, Rasmus Hvidbjerg Gantzel, Moises Alberto Suarez‐Zdunek, Mette Bak Nielsen, Allan Rasmussen, Susanne Dam Nielsen, Henning Grønbæk, Gerda Elisabeth Villadsen   +7 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

Liver Cirrhosis Patients Who Had Normal Liver Function Before Liver Cirrhosis Development Have the Altered Metabolic Profiles Before the Disease Occurrence Compared to Healthy Controls [PDF]

, 2019
Liver cirrhosis (LC) is the final usual outcome of liver damage induced by various chronic liver diseases. Because of asymptomatic nature of LC, it is usually diagnosed at late and advanced stages, and patients are easy to miss the best timing for ...
정금지, 지선하
core   +1 more source

Therapeutic Monitoring of Patients With Hereditary Tyrosinemia Type 1—A Belgian Monocentric Experience

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Hereditary tyrosinemia type I (HT‐1) is a rare metabolic disorder treated by NTBC, requiring careful therapeutic and nutritional monitoring. While follow‐up traditionally relies on urinary succinylacetone, plasma NTBC and plasma amino acids, dried blood spot (DBS) methods have introduced alternative monitoring options.
Anne‐Sophie Adam, Lionel Marcélis, David Fage, Elise Mathieu, Aurélie Empain, Céline Dufour, Frédéric Cotton, Corinne de Laet   +7 more
wiley   +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