Sentences with word «neurometabolic»

Saturday, Oct. 22, 10:45 - 11:00 am, Ballroom B, West Building Platform Presentation: Personalized medicine for neurometabolic disorders via an integrated «- omics» approach C. van Karnebeek, University of British Columbia, et al

These deficiencies stem from neurometabolic diseases and defects in the biosynthesis of this important amino acid.

Heather Mortiboys (Reichmann, TUD)-- «Influence of mitochondrial energy metabilism on cellular function: implication for neurometabolic and neurodegenerative diseases» (2006)

She published over 50 manuscripts on neurometabolic genetic disorders in peer - reviewed medical journals.

Take Sam, who suffered «an undiagnosable, degenerative neurometabolic disorder.»

«Cognitive activities such as watching television, listening to music, using the computer, text messaging, playing video games, concentrating in the classroom, and completing academic assignments can place additional neurometabolic demand on the brain because they all require mental exertion.

In this pilot study, we present an automated bioinformatics approach for the integration of WES with UM data from seven neurometabolic patients with known IEMs and 15 controls; our goal was to identify concordance between genetic and metabolomic dysregulation and illustrate the challenges and successes of combining such large datasets.

The L -2-HGA test can be used to determine the genetic status of a dog in respect to the mutation and to make informed decisions about mating schemes to prevent the occurrence of this undesirable neurometabolic disorder in progeny.

In an effort to achieve these goals, we have established interdisciplinary partnerships devoted to the study of basic biological processes and signaling pathways targeted by neurodegeneration in Alzheimer's and Parkinson's disease, tauopathies, Down syndrome, neurometabolic disease (including obesity & diabetes), motor neuron disease and traumatic brain injury.

The ketogenic diet is a first - line treatment for the neurometabolic diseases glucose transporter type 1 (GLUT1) deficiency syndrome and pyruvate dehydrogenase (PDH) deficiency.

That said the use of carnitine has shown some promise in treating some neurometabolic disorders but the jury is still out.

L -2-hydroxyglutaric aciduria (L -2-HGA) in Staffordshire Bull Terrier is a neurometabolic disorder that produces a variety of clinical neurological deficits, including epileptic seizures, wobbly gait, tremors, and muscle stiffness as a result of exercise or excitement.

It is a neurometabolic disorder caused by elevated levels of L - 2 hydroxyglutaric acid.