Evidence map›Paper›PMID 42707122›Full record

ArticleJIMD reports2026

Unmasking Mucopolysaccharidosis Type I in a Patient With Wolf-Hirschhorn Syndrome: Diagnostic Overshadowing.

Karla Cifuentes-Uribe, Sandrine Girard, Roseline Froissart, Magali Pettazzoni, Nathalie Guffon

Abstract read
In one paragraph

Article in JIMD 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.

0numbers the graph read from it
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

5 authors.

Karla Cifuentes-UribeReference Center for Inherited Metabolic Disorders, Femme Mère Enfant Hospital Hospices Civils de Lyon Bron France.ORCID https://orcid.org/0009-0007-3717-6359
Sandrine GirardLaboratory of Hematology, Center of Biology and Pathology East Hospices Civils de Lyon Lyon France.ORCID https://orcid.org/0009-0009-8924-2797
Roseline FroissartDepartment of Biochemistry and Molecular Biology, Inborn Error of Metabolism Unit Hospices Civils de Lyon Lyon France.
Magali PettazzoniDepartment of Biochemistry and Molecular Biology, Inborn Error of Metabolism Unit Hospices Civils de Lyon Lyon France.ORCID https://orcid.org/0000-0002-9569-912X
Nathalie GuffonReference Center for Inherited Metabolic Disorders, Femme Mère Enfant Hospital Hospices Civils de Lyon Bron France.ORCID https://orcid.org/0000-0002-3052-2366

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Mucopolysaccharidosis Type I (MPS I) is a rare lysosomal storage disorder caused by α-l-iduronidase deficiency, leading to glycosaminoglycan accumulation and multisystem involvement. Wolf-Hirschhorn Syndrome (WHS) is a chromosomal disorder characterized by growth delay, dysmorphism, and developmental impairment. Because the

Indexed as

diagnostic overshadowingdual diagnosisgasser cellslysosomal storage disorderMucopolysaccharidosis Type IWolf–Hirschhorn syndrome

Identifiers

PMID42707122
PMCPMC13547081

What OpenQuestion holds

Textmetadata
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.