Evidence map›Paper›PMID 41970633›Full record

ArticleBiochemistry and biophysics reports2026

Quantification of glycosaminoglycans in dried blood spots, and evaluation of its usefulness as a secondary newborn screening test for mucopolysaccharidoses.

Wataru Oboshi, Asami Hirakiyama, Masahiro Miura, Hikaru Omachi, Misa Tanaka, Joo-Hyun Seo, Akira Ohtake, Yoshimitsu Osawa, Mika Ishige, Motomichi Kosuga and 18 more

Abstract read
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In one paragraph

Article in Biochemistry and biophysics reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

28 authors.

Wataru OboshiAnGes Clinical Research Laboratory, AnGes, Inc., Japan.
Asami HirakiyamaAnGes Clinical Research Laboratory, AnGes, Inc., Japan.
Masahiro MiuraAnGes Clinical Research Laboratory, AnGes, Inc., Japan.
Hikaru OmachiAnGes Clinical Research Laboratory, AnGes, Inc., Japan.
Misa TanakaDepartment of Clinical Genomics, Saitama Medical University, Saitama, Japan.
Joo-Hyun SeoDepartment of Clinical Genomics, Saitama Medical University, Saitama, Japan.
Akira OhtakeDepartment of Clinical Genomics, Saitama Medical University, Saitama, Japan.
Yoshimitsu OsawaDepartment of Pediatrics, Gunma University Graduate School of Medicine, Gunma, Japan.
Mika IshigeDepartment of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan.
Motomichi KosugaDivision of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan.
Takeshi MunenagaDepartment of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
Ohsuke MigitaDepartment of Laboratory Medicine, St. Marianna University School of Medicine, Kanagawa, Japan.
Hiromi NyuzukiDivision of Pediatrics, Department of Homeostatic Regulation and Development, Graduate School of Medical and Dental Sciences, Niigata University, Niigata, Japan.
Hideo SasaiDepartment of Pediatrics, Gifu University Graduate School of Medicine, Gifu, Japan.
Tokiko FukudaDepartment of Pediatrics, Hamamatsu University School of Medicine, Shizuoka, Japan.
Shinichiro SanoDepartment of Diabetes and Metabolism, Shizuoka Children's Hospital, Shizuoka, Japan.
Tetsuya ItoDepartment of Pediatrics, School of Medicine, Fujita Health University, Aichi, Japan.
Ryosuke BoDepartment of Pediatrics, Kobe University Graduate School of Medicine, Hyogo, Japan.
Yasuhiro TakeshimaDepartment of Pediatrics, Hyogo Medical University, Hyogo, Japan.
Hiroyuki EsakiDepartment of Pediatrics, Sasebo City General Hospital, Nagasaki, Japan.
Takahito InoueDepartment of Pediatrics, Fukuoka University Chikushi Hospital, Fukuoka, Japan.
Shinichiro NagamitsuDepartment of Pediatrics, Fukuoka University Faculty of Medicine, Fukuoka, Japan.
Yoriko WatanabeResearch Institute of Medical Mass Spectrometry, Kurume University School of Medicine, Fukuoka, Japan.
Kimitoshi NakamuraDepartment of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
Hirotake SawadaDepartment of Nursing, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan.
Shinsuke MaruyamaDepartment of Pediatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
Kei MurayamaDiagnosis and Therapeutics of Intractable Disease, Juntendo University Faculty of Medicine, Tokyo, Japan.
Torayuki OkuyamaDepartment of Clinical Genomics, Saitama Medical University, Saitama, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mucopolysaccharidoses (MPS) are a group of lysosomal disorders characterized by pathological accumulation of glycosaminoglycans (GAGs). Enzyme-based newborn screening (NBS) for MPS often yields high false-positive rates because of carriers and pseudodeficient newborns. To improve screening specificity, we developed an LC-MS/MS-based enzymatic method to quantify GAG-derived disaccharides in dried blood spots (DBSs) and evaluated its utility as a second-tier test. Using DBS samples MPS-positive newborns, we quantified dermatan sulfate- (DS), heparan sulfate- (HS), and keratan sulfate-derived disaccharides. Under the primary positivity rule (DS or HS ≥ the 95th percentile cutoff), the method achieved 100% sensitivity and specificity for MPS I, completely eliminating false-positive results among MPS I carriers. For MPS II, the same rule yielded 100% sensitivity and 84.3% specificity. Reanalysis using a stricter rule requiring both DS and HS to exceed the cutoff improved specificity for MPS II to 100% without loss of sensitivity (100%). All confirmed MPS I and II patients exceeded both DS and HS cutoffs, whereas HS-only values above the cutoff occurred exclusively in MPS II pseudodeficiency, reflecting analytical and cutoff-related overlap rather than pathological GAG accumulation. Based on these findings, we recommend the stricter dual-marker rule for laboratory implementation, particularly for improving specificity in MPS II. Implementation of this approach as a second-tier test may substantially reduce false-positive referrals, eliminating all false positives for MPS I carriers and improving specificity for MPS II pseudodeficiency from 84.3% to 100%. This method may serve as a practical complementary screening tool within expanded NBS programs.

Indexed as

Dermatan sulfateGlycosaminoglycanHeparan sulfateKeratan sulfateMucopolysaccharidosisNewborn screening

Identifiers

PMID41970633
PMCPMC13068866

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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.