English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

Acylcarnitine profiling from blood or plasma samples by electrospray tandem mass spectrometry (ESI-MS/MS) has been recognized recently as a useful tool in the biochemical diagnosis of propionic acidemia, methylmalonic acidemia together with short-chain and medium-chain acyl-CoA dehydrogenase deficiencies. In the current study, we have investigated the diagnostic capabilities of ESI-MS/MS in other types of organic acidemias and amino acid catabolism disorders. Using multiple scanning functions, we examined the potential for the simultaneous profiling of both acylcarnitines and amino acids, in each of the samples. Our method was found to be specific and accurate; allowing quantification of acylcarnitines and amino acids well below, and significantly above, published normal levels. Complete automation of sample introduction has been achieved, allowing the analysis of up to 200 samples in one injection sequence, at a rate of one sample every 3 min, with excellent separation between successive injections. In our hands, this method permits screening for 20 organic acid and amino acid disorders, using a single sample injection. In our laboratory, more than 2000 blood samples have been analyzed, and 52 new cases were diagnosed by this method. We also confirmed the diagnosis of another 75 previously known cases.

pediatric research

Diagnosis of Inborn Errors of Metabolism from Blood Spots by Acylcarnitines and Amino Acids Profiling Using Automated Electrospray Tandem Mass Spectrometry