Evidence map›Paper›PMID 23838369›Full record

ArticleClinica chimica acta; international journal of clinical chemistry2013

Direct tandem mass spectrometric profiling of sulfatides in dry urinary samples for screening of metachromatic leukodystrophy.

Ladislav Kuchař, Befekadu Asfaw, Helena Poupětová, Jitka Honzíková, František Tureček, Jana Ledvinová

Open access · greenAbstract read
In one paragraph

Article in Clinica chimica acta; international journal of clinical chemistry, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.6field-weighted citation impact, top 17% 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

6 citing papers in PubMed, 18 citations in OpenAlex.

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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

6 authors at 2 institutions in 2 countries.

Ladislav KuchařInstitute of Inherited Metabolic Diseases, First Faculty of Medicine and General Teaching Hospital, Charles University, 128 08 Prague, Czech Republic.
Befekadu Asfaw
Helena Poupětová
Jitka Honzíková
František Tureček
Jana Ledvinová
Charles University · CZUniversity of Washington · US

Funding

Multiplex Analysis of Inborn Errors of MetabolismR01DK067859 · NIDDK · UNIVERSITY OF WASHINGTON · PI GELB, MICHAEL H · 2003 to 2025
$9.8M
NIDDK NIH HHS R01 DK067859
6 · The paper itself

Abstract

backgroundPrediagnostic steps in suspected metachromatic leukodystrophy (MLD) rely on clinical chemical methods other than enzyme assays. We report a new diagnostic method which evaluates changes in the spectrum of molecular types of sulfatides (3-O-sulfogalactosyl ceramides) in MLD urine.

methodsThe procedure allows isolation of urinary sulfatides by solid-phase extraction on DEAE-cellulose membranes, transportation of a dry membrane followed by elution and tandem mass spectrometry (MS/MS) analysis in the clinical laboratory. Major sulfatide isoforms are normalized to the least variable component of the spectrum, which is the indigenous C18:0 isoform. This procedure does not require the use of specific internal standards and minimizes errors caused by sample preparation and measurement.

resultsUrinary sulfatides were analyzed in a set of 21 samples from patients affected by sulfatidosis. The combined abundance of the five most elevated isoforms, C22:0, C22:0-OH, C24:0, C24:1-OH, and C24:0-OH sulfatides, was found to give the greatest distinction between MLD-affected patients and a control group.

conclusionsThe method avoids transportation of liquid urine samples and generates stable membrane-bound sulfatide samples that can be stored at ambient temperature. MS/MS sulfatide profiling targeted on the most MLD-representative isoforms is simple with robust results and is suitable for screening.

Indexed as

AdolescentCase-Control StudiesChildChild, PreschoolDEAE-CelluloseDesiccationFemaleHumansInfantLeukodystrophy, MetachromaticMaleMembranes, ArtificialMiddle AgedReference StandardsSolid Phase ExtractionSpecimen HandlingDEAE-CelluloseMembranes, ArtificialSulfoglycosphingolipidsarylsulfatase AASAcoefficient of variationCVDEAEDEAE-cellulose membraneDiethylaminoethyldry urinary sampleDry urinary samplesDUSIPNisoform profile number (ratio of the sum of the major five isoforms and the C18:0 sulfatide)Isoformsmetachromatic leukodystrophyMLDMS/MSpolytetrafluoroethyleneprosaposin deficiencyPsap-dPTFEScreening for metachromatic leukodystrophyselected reaction monitoringsignal to noise ratioS/NSRMtandem mass spectrometryTandem mass spectrometryUrinary sulfatide

Identifiers

PMID23838369
PMCPMC3806293
OpenAlexW2074657730

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Registered trials

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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.