Results 81 to 90 of about 2,700,321 (328)

INBORN ERRORS OF METABOLISM

open access: yesNutrition Reviews, 2009
Abstract Understanding metabolic disease can be difficult in its own right. Under stressful situations such as those involving a sick infant, it becomes much more difficult. This resource is a talk whose purpose is to provide a simple framework with which to expeditiously diagnose a sick child who has a metabolic disorder.
openaire   +5 more sources

Dysmorphology of inborn errors of metabolism [PDF]

open access: yesMolecular Cytogenetics, 2014
As we discover the molecular mechanism of disorders, eventually all dysmorphic syndromes will ultimately be considered biochemical defects. An overview on the recognition and classification of dysmorphic features will be provided. Categories of inborn errors of metabolism associated with dysmorphic manifestations will be discussed. For e.g.
openaire   +3 more sources

Inherited metabolic epilepsies–established diseases, new approaches

open access: yesEpilepsia 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

Reprograming of proteasomal degradation by branched chain amino acid metabolism

open access: yesAging Cell, Volume 21, Issue 12, December 2022., 2022
Using genetics and multi‐omics analyses in Caenorhabditis elegans, we identified adaptive regulation of the ubiquitin‐proteasome system (UPS) in response to defective branched chain amino acid (BCAA) metabolism. Worms with impaired BCAA metabolism show slower turnover of a GFP‐based proteasome substrate, which is suppressed by loss‐of‐function of the ...
Sonia Ravanelli   +5 more
wiley   +1 more source

Applications and Challenges of Auditory Brain‐Computer Interfaces in Objective Auditory Assessments for Pediatric Cochlear Implants

open access: yesExploration, EarlyView.
Auditory brain‐computer interface connects the brain with external devices and decodes neural signals related to auditory perception. Time‐domain and frequency‐domain analyses are commonly used to identify biomarkers associated with auditory rehabilitation, such as cortical auditory evoked potentials and mismatch negativity.
Qi Zheng   +6 more
wiley   +1 more source

Metformin has heterogeneous effects on model organism lifespans and is beneficial when started at an early age in Caenorhabditis elegans: A systematic review and meta‐analysis

open access: yesAging Cell, Volume 21, Issue 12, December 2022., 2022
Across studies, metformin seems to prolong lifespan in nematodes fed a specific bacterial diet but not in mice and may have a larger effect if started early in life. Abstract There is growing interest in the use of metformin to extend lifespan and prevent the onset of age‐related disorders in non‐diabetic individuals.
Austin J. Parish, William R. Swindell
wiley   +1 more source

Predicting metabolic biomarkers of human inborn errors of metabolism

open access: yesMolecular Systems Biology, 2009
Early diagnosis of inborn errors of metabolism is commonly performed through biofluid metabolomics, which detects specific metabolic biomarkers whose concentration is altered due to genomic mutations.
Tomer Shlomi   +2 more
doaj   +1 more source

Network-based confidence scoring system for genome-scale metabolic reconstructions [PDF]

open access: yesarXiv, 2010
Reliability on complex biological networks reconstructions remains a concern. Although observations are getting more and more precise, the data collection process is yet error prone and the proofs display uneven certitude. In the case of metabolic networks, the currently employed confidence scoring system rates reactions according to a discretized ...
arxiv  

Berries: Health Effects via Modulation of the Gut Microbiota

open access: yesFood Frontiers, EarlyView.
ABSTRACT Berries are widely regarded as beneficial foods, rich in polyphenols, flavonoids, and other bioactive compounds that could positively influence human health. Although the gut microbiota plays a crucial role in metabolism and physiology of humans, the interaction between berries and human gut microbiota activity remains unclear.
Manjin Xu   +11 more
wiley   +1 more source

Cysteine restriction‐specific effects of sulfur amino acid restriction on lipid metabolism

open access: yesAging Cell, Volume 21, Issue 12, December 2022., 2022
The proposed mechanism of CR‐specific effects of SAAR on adipose metabolism. (1) Due to the lack of Cys in SAAR diets, it imposes both MR and CR. CR specifically results in decreased biosynthesis of the tripeptide glutathione. (2) Lower hepatic glutathione increases the abundance of the transcription factor Nrf2, which translocates to the nucleus and ...
Sailendra N. Nichenametla   +17 more
wiley   +1 more source

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