Results 81 to 90 of about 38,143 (313)

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

Mapping an atlas of tissue-specific drosophila melanogaster metabolomes by high resolution mass spectrometry [PDF]

open access: yes, 2013
Metabolomics can provide exciting insights into organismal function, but most work on simple models has focussed on the whole organism metabolome, so missing the contributions of individual tissues.
A Kamleh   +47 more
core   +3 more sources

Contraindicated drug–drug interactions and associated adverse drug reactions in an observational cohort study of 4543 paediatric hospitalized patients

open access: yesBritish Journal of Clinical Pharmacology, EarlyView.
Abstract Background and Purpose Drug–drug interactions (DDIs) are associated with an increased risk of adverse drug reactions (ADRs). Hospitalized children are particularly vulnerable to DDIs and ADRs due to polypharmacy, frequent use of unlicensed or off‐label medications, and dosing regimens often extrapolated from adult data.
Emilie Laval   +6 more
wiley   +1 more source

Historic landmarks in clinical transplantation: Conclusions from the consensus conference at the University of California, Los Angeles [PDF]

open access: yes, 2000
The transplantation of organs, cells, and tissues has burgeoned during the last quarter century, with the development of multiple new specialty fields.
Brent, LB   +11 more
core   +1 more source

Dried blood spot analysis in antidoping: Technical challenges, analytical advances, and future perspectives

open access: yesBulletin of the Korean Chemical Society, EarlyView.
Dried blood spot (DBS) analysis enables minimally invasive blood collection with strong analyte stability and simplified logistics, supporting anti‐doping applications beyond traditional matrices. Recent advances address hematocrit, volume variability, and matrix effects while expanding coverage to steroid esters, World Anti‐Doping Agency‐listed ...
Jihyun Yoon   +4 more
wiley   +1 more source

The spread of non‐native species

open access: yesBiological Reviews, EarlyView.
ABSTRACT The global redistribution of species through human agency is one of the defining ecological signatures of the Anthropocene, with biological invasions reshaping biodiversity patterns, ecosystem processes and services, and species interactions globally.
Phillip J. Haubrock   +16 more
wiley   +1 more source

Plasma C24:0- and C26:0-lysophosphatidylcholines are reliable biomarkers for the diagnosis of peroxisomal β-oxidation disorders

open access: yesJournal of Lipid Research
The gold-standard diagnostic test for peroxisomal disorders (PDs) is plasma concentration analysis of very long-chain fatty acids (VLCFAs). However, this method’s time-consuming nature and limitations in cases which present normal VLCFA levels ...
Blai Morales-Romero   +9 more
doaj   +1 more source

The ageing holobiont: crosstalk between telomere dynamics, oxidative stress and the gut microbiome

open access: yesBiological Reviews, EarlyView.
ABSTRACT The gut tissue is at the frontline of early onset of ageing. It exhibits high cell turnover rates and rapid telomere shortening, which can have systemic effects on the developing or senescing organism. We conducted a literature review of studies on the crosstalk between telomere length dynamics, telomerase activity, oxidative stress, and gut ...
Michael L. Pepke   +2 more
wiley   +1 more source

Aminosäuren – Leitlinie Parenterale Ernährung, Kapitel 4 [PDF]

open access: yes, 2009
Protein catabolism should be reduced and protein synthesis promoted with parenteral nutrion (PN). Amino acid (AA) solutions should always be infused with PN. Standard AA solutions are generally used, whereas specially adapted AA solutions may be required
Blumenstein, Irina Ursula   +4 more
core  

Inborn Errors of Metabolism

open access: yes, 2016
Inborn errors of metabolism are single gene disorders resulting from the defects in the biochemical pathways of the body. Although these disorders are individually rare, collectively they account for a significant portion of childhood disability and deaths.
openaire   +3 more sources

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