Results 71 to 80 of about 2,214,124 (236)

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

open access: yesNeuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji   +4 more
wiley   +1 more source

Inherited disorders of complex lipid metabolism: A clinical review

open access: yes, 2021
Over 80 human diseases have been attributed to defects in complex lipid metabolism. A majority of them have been reported recently in the setting of rapid advances in genomic technology and their increased use in clinical settings.
Ferreira, Carlos R.   +3 more
core   +1 more source

Applications and prospects of artificial intelligence and digital medicine in pediatric nasal skull base tumors

open access: yesPediatric Investigation, EarlyView.
Pediatric nasal skull base tumors present diagnostic and therapeutic challenges due to their deep location, nonspecific symptoms, and the narrow nasal cavity in children. Although artificial intelligence (AI) and digital medicine have advanced early diagnosis, multidisciplinary treatment, and prognosis, their application in these rare tumors remains ...
Xiuping Wu   +5 more
wiley   +1 more source

Cardiovascular disease biomarkers in patients with inborn errors of protein metabolism: A pilot study [PDF]

open access: yes, 2015
Background: Limited data exist so far on cardiovascular disease biomarkers in patients maintained on a protein-restricted diet for inborn errors of protein metabolism. The present study aimed to analyse plasma cholesterol, lipoproteins, triglycerides and
Daher, Rose T.   +4 more
core   +2 more sources

Occasional seizures, epilepsy, and inborn errors of metabolism

open access: yes, 2014
Seizures are a common paediatric problem, with inborn errors of metabolism being a rare underlying aetiology. The clinical presentation of inborn errors of metabolism is often associated with other neurological symptoms, such as hypotonia, movement ...
Dulac, Olivier   +7 more
core   +1 more source

Special Issue on “Advances in Cholesterol and Lipid Metabolism”

open access: yes, 2022
Cholesterol and lipid metabolism is a broad topic that encompasses multiple aspects of cellular function in every organ [...
Reiss, Allison B.   +3 more
core   +1 more source

Impact of sleep insufficiency and recovery on cancer development

open access: yesSleep Research, EarlyView.
Abstract Sleep plays a critical role in overall health, and modern lifestyles, such as shift work and late‐night activities, can significantly impact sleep condition. Insufficient sleep has been associated with various adverse health outcomes, including an increased risk of tumor development.
Xiaxi Li, Chuanyuan Li, Yi Zhang
wiley   +1 more source

Nutritional Management of Patients with Inborn Errors of Metabolism

open access: yes
Inborn errors of metabolism (IEM) are a large group of single-gene disorders resulting from enzyme defects in biochemical and metabolic pathways [...
Isidro Vitoria, María-Luz Couce
core   +1 more source

Nonthermal plasma approaches for combating implant‐associated infections: A compendious review

open access: yesVIEW, EarlyView.
Implant‐associated infections pose serious clinical challenges. Non‐thermal plasma (NTP) modifications overcome this bottleneck in distinct ways relative to traditional sterilization methods. Gas‐phase plasmas generate highly energetic species, UV radiation and reactive oxygen/nitrogen species (RONS), which alter the implant surface properties.
A. M. Trimukhe   +8 more
wiley   +1 more source

EPILEPSY IN INBORN ERRORS OF METABOLISM [PDF]

open access: yes, 2016
Epilepsy is a frequent and sometimes leading symptom in inborn errors of metabolism, especially in neonatal or infantile ones. Early myoclonic encephalopathy and myoclonus as a seizure type are the prototypes of epilepsy in inherited metabolic diseases ...
E. D. Belousova
core   +1 more source

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