Results 101 to 110 of about 39,677 (355)

CNTF protects oligodendrocytes from ammonia toxicity: Intracellular signaling pathways involved

open access: yesNeurobiology of Disease, 2009
In pediatric patients, hyperammonemia can provoke irreversible damages to developing CNS like cortical atrophy, ventricular enlargement, demyelination or gray and white matter hypodensities which are concordant with alterations of neurons and ...
Laurène Cagnon, Olivier Braissant
doaj   +1 more source

Cytochrome P450 2D6 *17 and *29 Allele Activity for Risperidone Metabolism: Advancing Precision Medicine Health Equity

open access: yesClinical Pharmacology &Therapeutics, EarlyView.
CYP2D6 alleles with low frequency in Eurocentrically biased study populations are often excluded from pharmacogenetic investigation and consequently may have misassigned activity values. This health inequity may be contributing to imprecise dose predictions for CYP2D6‐metabolizing drugs.
Oyinlade Kehinde   +6 more
wiley   +1 more source

Evolving Real‐World Data and Evidence Use for New Drugs and Regenerative Medical Products Approvals in Japan—An Analysis of the 6‐Year Trend

open access: yesClinical Pharmacology &Therapeutics, EarlyView.
Several regulatory initiatives have been made to clarify the acceptability and requirements of real‐world data and real‐world evidence (RWD/E) for the benefit/risk assessment of new medical products in Japan. The objectives of this review were to characterize the use of RWD/E in regulatory applications of new medical products and to describe the ...
Suguru Okami   +2 more
wiley   +1 more source

Role of caspases, calpain and cdk5 in ammonia-induced cell death in developing brain cells

open access: yesNeurobiology of Disease, 2008
Hyperammonemia in neonates and infants causes irreversible damages in the developing CNS due to brain cell loss. Elucidating the mechanisms triggering ammonia-induced cell death in CNS is necessary for the development of neuroprotective strategies.
Laurène Cagnon, Olivier Braissant
doaj   +1 more source

New Developments in Screening for Inborn Errors of Metabolism [PDF]

open access: yes, 1971
I have briefly outlined the PKU program in the State of Virginia and tried to demonstrate how this screening experience has disclosed the heterogeneity of the disease plus the need for an individualized approach to dietary control.
Mamunes, Peter
core   +1 more source

Challenges in experimental data integration within genome-scale metabolic models [PDF]

open access: yes, 2010
A report of the meeting "Challenges in experimental data integration within genome-scale metabolic models", Institut Henri Poincar\'e, Paris, October 10-11 2009, organized by the CNRS-MPG joint program in Systems Biology.Comment: 5 ...
Bourguignon, Pierre-Yves   +4 more
core   +6 more sources

Metabolic abnormalities and reprogramming in cats with naturally occurring hypertrophic cardiomyopathy

open access: yesESC Heart Failure, Volume 12, Issue 2, Page 1256-1270, April 2025.
Abstract Background and aims The heart is a metabolic organ rich in mitochondria. The failing heart reprograms to utilize different energy substrates, which increase its oxygen consumption. These adaptive changes contribute to increased oxidative stress.
Qinghong Li   +12 more
wiley   +1 more source

First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain)

open access: yesFrontiers in Immunology, 2019
Severe combined immunodeficiency (SCID), the most severe form of T-cell immunodeficiency, can be screened at birth by quantifying T-cell receptor excision circles (TRECs) in dried blood spot (DBS) samples.
Ana Argudo-Ramírez   +15 more
doaj   +1 more source

Newborn screening using tandem mass spectrometry: A systematic review [PDF]

open access: yes
Objectives: To evaluate the evidence for the clinical effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS).
Beverley, C.   +4 more
core  

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