Results 51 to 60 of about 6,468 (222)
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 +17 more
wiley +1 more source
Tyrosinemia type III in an asymptomatic girl
Molecular Genetics and Metabolism Reports, 2015 Tyrosinemia type 3 (HT3) is a rare inborn error of tyrosine metabolism caused by mutations in the HPD gene encoding 4-hydroxyphenyl-pyruvate dioxygenase, which is transmitted in an autosomal recessive trait.
Edyta Szymanska +6 more
doaj +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 +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 +3 more
wiley +1 more source
Stem Cell Research, 2021 Here we describe the generation of induced pluripotent stem cells (iPSCs) from a patient diagnosed as hereditary tyrosinemia type I (HT1) caused by FAH gene mutation.
Haiyan Zhang +7 more
doaj +1 more source
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 +7 more
wiley +1 more source
Inborn errors of metabolism: a clinical overview [PDF]
, 1999 CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core +4 more sources
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 +2 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 +6 more
wiley +1 more source
Российский журнал гастроэнтерологии, гепатологии, колопроктологии, 2015 Aim of investigation. To carry out objective estimation of liver parenchyma state in children with the 1-st type hereditary tyrosinemia (НТ-1) by ultrasound method with quantitative estimation of hepatic parenchyma pattern.Material and methods.
G. M. Dvoryakovskaya +3 more
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