Results 61 to 70 of about 18,136 (230)
ESC Heart Failure, Volume 12, Issue 2, Page 1455-1463, April 2025.Abstract Aims The extent of irreversible cardiomyocyte necrosis after acute myocardial infarction (AMI) is a major determinant of residual left ventricular (LV) function and clinical outcome. Cell therapy based on CD34+ cells has emerged as an option to help repair the myocardium and to improve outcomes.
Jerome Roncalli +17 more
wiley +1 more source
Iranian Journal of Public Health, 2017 Phenylketonuria (PKU) is an inborn error of amino acid metabolism with an autosomal recessive inheritance caused in most cases by mutations in the phenylalanine hydroxylase (PAH) gene. PKU has wide allelic heterogeneity.
Masoumeh RAZIPOUR +7 more
doaj
The role of anxiety in the relationship between Phenylketonuria and working memory [PDF]
, 2022 Kelly M. Boland
openalex +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
Diagnostic odyssey for rare diseases: exploration of potential indicators [PDF]
, 2015 To explore whether an accurate, robust and cost-effective method can be developed for the routine measurement of the rare diseases diagnostic odysseys to enable the impact of interventions and policies, such as the 2013 UK Strategy for Rare Diseases, to ...
Black, N +2 more
core
Breastfeeding follow-up in the treatment of children with phenylketonuria [PDF]
A fenilcetonúria (PKU) ocorre na incapacidade para transformar fenilalanina em tirosina, trazendo efeitos tóxicos para o sistema nervoso central. Tradicionalmente, no tratamento da PKU, o aleitamento materno é substituído por fórmula láctea.
Anastácio-Pessan, Fernanda da Luz +6 more
core +1 more source
New insights into applications of base editor in hereditary disorders
Interdisciplinary Medicine, EarlyView.Abstract Hereditary disorders are a group of diseases caused by genetic mutations or chromosomal variations. Although the incidence of each genetic disorder is relatively low, patients affected by the disease generally experience a range of severe symptoms, including blindness, disability, and even premature death. In addition, the available treatments
Maoping Cai +8 more
wiley +1 more source
Macromolecular Bioscience, EarlyView.In this study, dendrigraft polylysines (DGLs) modified with 1,2‐cyclohexanedicarboxylic acid (CHex) and phenylalanine (Phe) were synthesized using different generations of DGL by reacting with Phe at different ratios for drug delivery to T cells. DGL(G3)‐CHex‐Phe93 was associated with T cells efficiently, retained a model hydrophobic drug, paclitaxel ...
Chie Kojima +2 more
wiley +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear +7 more
wiley +1 more source
Lipid Nanoparticles for Delivery of CRISPR Gene Editing Components
Small Methods, EarlyView.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