Evidence map›Paper›PMID 31718089›Full record

ArticleMetabolites2019

Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment.

Julien Baruteau, Youssef Khalil, Stephanie Grunewald, Marta Zancolli, Anupam Chakrapani, Maureen Cleary, James Davison, Emma Footitt, Simon N Waddington, Paul Gissen and 1 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Metabolites, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.6field-weighted citation impact, top 32% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 5 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors at 3 institutions in 2 countries.

Julien BaruteauGenetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1E 6BT, UK.ORCID 0000-0003-0582-540X
Youssef KhalilGenetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1E 6BT, UK.ORCID 0000-0001-9025-3017
Stephanie GrunewaldMetabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.
Marta ZancolliNational Institute of Health Research Great Ormond Street Hospital Biomedical Research Centre, London W1T 7HA, UK.
Anupam ChakrapaniMetabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.
Maureen ClearyMetabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.
James DavisonMetabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.
Emma FootittMetabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK.
Simon N WaddingtonGene Transfer Technology Group, Institute for Women's Health, University College London, London WC1E 6BT, UK.ORCID 0000-0003-4970-4730
Paul GissenGenetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1E 6BT, UK.ORCID 0000-0002-9712-6122
Philippa MillsGenetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1E 6BT, UK.
Great Ormond Street Hospital · GBGreat Ormond Street Hospital for Children NHS Foundation Trust · GBSouth African Medical Research Council · ZA

Funding

European Research Council "Somabio" (260862)Medical Research Council MR/N019075/1Medical Research Council MR/P026494/1Medical Research Council MR/R015325/1Medical Research Council MR/S019111/1National Centre for the Replacement, Refinement and Reduction of Animals in Research NC/L001780/1
6 · The paper itself

Abstract

backgroundDried bloodspots are easy to collect and to transport to assess various metabolites, such as amino acids. Dried bloodspots are routinely used for diagnosis and monitoring of some inherited metabolic diseases.

methodsMeasurement of amino acids from dried blood spots by liquid chromatography-tandem mass spectrometry.

resultsWe describe a novel rapid method to measure underivatised urea cycle related amino acids. Application of this method enabled accurate monitoring of these amino acids to assess the efficacy of therapies in argininosuccinate lyase deficient mice and monitoring of these metabolites in patients with urea cycle defects.

conclusionMeasuring urea cycle related amino acids in urea cycle defects from dried blood spots is a reliable tool in animal research and will be of benefit in the clinic, facilitating optimisation of protein-restricted diet and preventing amino acid deprivation.

Indexed as

amino acidsargininosuccinate lyasedried blood spotstandem mass spectrometryurea cycle

Identifiers

PMID31718089
PMCPMC6918381
OpenAlexW2988914360

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.