Tandem mass spectrometric assay of N-acetylglucosamine-6-sulfatase for multiplex analysis of mucopolysaccharidosis-IIID in dried blood spots.

Yuexuan Liu, Michael H Gelb

Open access · greenAbstract read

In one paragraph

Article in Molecular genetics and metabolism, 2024. 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

0.4field-weighted citation impact, top 37% 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, 2 citations in OpenAlex.

Advances in mucopolysaccharidosis research: the impact of mass spectrometry-based approaches.Clinical proteomics · 2025
Review

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

2 authors at 1 institution in 1 country.

Yuexuan LiuDepartment of Chemistry, University of Washington, Seattle, WA 98195, USA.

Michael H GelbDepartment of Chemistry, University of Washington, Seattle, WA 98195, USA. Electronic address: gelb@uw.edu.

University 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

Previously we developed a multiplex liquid chromatography-tandem mass spectrometry (LC-MS/MS) assay using dried blood spots for all subtypes of mucopolysaccharidoses (MPS) except MPS-IIID. Here we show that the MPS-IIID enzyme N-acetylglucosamine-6-sulfatase (GNS) is inhibited in dried blood spot (DBS) extracts, but activity can be recovered if the extract is diluted to reduce the concentrations of endogenous inhibitors. The new GNS assay displays acceptable characteristics including linearity in product formation with incubation time and amount of enzyme, low variability, and ability to distinguish MPS-IIID-affected from healthy patients using DBS. The assay can be added to the LC-MS/MS multiplex panel for all MPS subtypes requiring ∼2 min per newborn for the LC-MS/MS run.

Indexed as

MucopolysaccharidosesMucopolysaccharidosis VIChromatography, LiquidDried Blood Spot TestingHumansInfant, NewbornSulfatasesTandem Mass SpectrometryN-acetylglucosamine-6-sulfataseSulfatasesMucopolysaccharidosisNewborn screeningSanfilippoSyndrome type DTandem mass spectrometry

Identifiers

PMID38128203

DOI10.1016/j.ymgme.2023.108105

PMCPMC10842764

OpenAlexW4389166217

What OpenQuestion holds

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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.