Results 71 to 80 of about 30,878 (268)

Challenges in the management of Phenylketonuria in Malta [PDF]

open access: yes, 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  

Evidence of Oxidative Stress and Secondary Mitochondrial Dysfunction in Metabolic and Non-Metabolic Disorders [PDF]

open access: yes, 2017
: Mitochondrial dysfunction and oxidative stress have been implicated in the pathogenesis of a number of diseases and conditions. Oxidative stress occurs once the antioxidant defenses of the body become overwhelmed and are no longer able to detoxify ...
Angermuller   +25 more
core   +1 more source

Phenylketonuria: a review [PDF]

open access: yesPostgraduate 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

Unified Neural Lexical Analysis Via Two‐Stage Span Tagging

open access: yesCAAI Transactions on Intelligence Technology, Volume 10, Issue 4, Page 1254-1267, August 2025.
ABSTRACT Lexical analysis is a fundamental task in natural language processing, which involves several subtasks, such as word segmentation (WS), part‐of‐speech (POS) tagging, and named entity recognition (NER). Recent works have shown that taking advantage of relatedness between these subtasks can be beneficial.
Yantuan Xian   +5 more
wiley   +1 more source

Silencing of juvenile hormone‐related genes through RNA interference leads to molt failure and high mortality in the spongy moth

open access: yesInsect Science, EarlyView.
The feasibility of using RNA interference to control the globally important quarantine pest, the spongy moth. Targeting genes related to JHs play an important role in the growth and development of insects. First, the open reading frames (ORFs) of Ldjhamt and Ldjheh were identified and characterized, and the target genes were cloned and double‐stranded ...
Wenzhuai Ji   +3 more
wiley   +1 more source

CRISPR Technology in Disease Management: An Updated Review of Clinical Translation and Therapeutic Potential

open access: yesCell Proliferation, EarlyView.
CRISPR‐Cas systems offer transformative genome editing capabilities for precise manipulation of cellular genes. This enables two main therapeutic avenues: ex vivo modification of patient cells for re‐transplantation or direct in vivo gene targeting via advanced delivery methods.
Bahareh Farasati Far   +4 more
wiley   +1 more source

Living with Phenylketonuria: Lessons from the PKU community

open access: yesMolecular Genetics and Metabolism Reports, 2018
Introduction: We report the practical, social and psychological issues of living with phenylketonuria (PKU) from one of the largest surveys that has been completed by both adults with PKU and parents/caregivers of children.
Suzanne Ford   +2 more
doaj   +1 more source

Rapid one-step separation and purification of recombinant phenylalanine dehydrogenase in aqueous two-phase systems [PDF]

open access: yes, 2008
Background: Phenylalanine dehydrogenase (PheDH; EC 1.4.1.20) is a NAD +-dependent enzyme that performs the reversible oxidative deamination of L-phenylalanine to phenylpyruvate.
Mohammadi, H.S.   +2 more
core  

N‐lactoyl amino acids are potential biomarkers for insulin resistance and diabetic complications

open access: yesDiabetes, Obesity and Metabolism, EarlyView.
Abstract Aims N‐lactoyl amino acids (Lac‐AA) are emerging as crucial players in metabolic research, with potential implications for disease mechanisms and therapeutic interventions. This study exploress the role of Lac‐AA in insulin resistance, type 2 diabetes (T2D), and its complications.
Khaled Naja   +9 more
wiley   +1 more source

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