Results 81 to 90 of about 32,659 (306)
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
Reproductive experience of women living with phenylketonuria
Molecular Genetics and Metabolism Reports, 2018 Introduction: Many women with PKU are well-informed about the risks of maternal PKU but there are several barriers to achieving satisfactory metabolic control before and during pregnancy.
Suzanne Ford +2 more
doaj +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
Challenges in the management of Phenylketonuria in Malta [PDF]
, 2016 Phenylketonuria (PKU) is a rare metabolic disorder comprising a number of different enzyme deficiencies. In Malta, dihydropteridine reductase (DHPR) deficiency appears to be more common than phenylalanine hydroxylase deficiency (classical PKU), and is ...
Attard Montalto, Simon, Attard, Stephen
core
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
The Prevalence of Phenylketonuria in Arab Countries, Turkey, and Iran: A Systematic Review
BioMed Research International, 2018 Background/Objectives This paper seeks to identify the prevalence of Phenylketonuria (PKU) in Arab countries, Turkey, and Iran. The study reviewed the existence of comprehensive national newborn screening programs and reported consanguinity rates ...
A. El-Metwally +8 more
semanticscholar +1 more source
MODERN PRINCIPLES OF DIET ORGANIZATION IN CHILDREN IN DIFFERENT AGE WITH PHENYLKETONURIA
Вопросы современной педиатрии, 2010 The article reports questions of diet organization in children with phenylketonuria in different age with the use of modern specialized food. Authors give examples of calculation of diet based on new norms of needs in energy and food for different groups
T.V. Bushuyeva, T.E. Borovik
doaj +2 more sources
Phenylketonuria: a review [PDF]
Postgraduate Medical Journal, 1970 SummaryThe development of a practical screening procedure for phenylketonuria and the improvement in methods of chemical analysis have led to a realization that Folling’s (1934) disease of phenylketonuria is not a single entity.In this commentary, the current view on some aspects of phenylketonuria will be reviewed and the problems illustrated by ...
openaire +3 more sources
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