Evidence map›Paper›PMID 37213966›Full record

ArticleCureus2023

Hurler Syndrome (Mucopolysaccharidosis Type 1): A Case Report.

Noman Khalid, Muhammad Abdullah, Abeer Bin Awais, Muhammad Hassan, Ameer Muhammad

Open access · diamondAbstract readCase Reports
In one paragraph

Article in Cureus, 2023. 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 41% 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.

  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

5 authors at 2 institutions in 2 countries.

Noman KhalidInternal Medicine, Shaikh Khalifa Bin Zayed Al-Nahyan Medical & Dental College, Shaikh Zayed Medical Complex, Lahore, PAK.
Muhammad AbdullahPublic Health & Community Medicine, Shaikh Khalifa Bin Zayed Al-Nahyan Medical & Dental College, Shaikh Zayed Medical Complex, Lahore, PAK.
Abeer Bin AwaisMedicine, Shaikh Khalifa Bin Zayed Al-Nahyan Medical & Dental College, Shaikh Zayed Medical Complex, Lahore, PAK.
Muhammad HassanMedicine, Shaikh Khalifa Bin Zayed Al-Nahyan Medical & Dental College, Shaikh Zayed Medical Complex, Lahore, PAK.
Ameer MuhammadInternal Medicine, Shaikh Zayed Hospital, Shaikh Zayed Medical Complex, Lahore, PAK.
Khost University · AFShaikh Zayed Hospital · PK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hurler syndrome is a rare autosomal recessive disorder of deficiency in the metabolism of glycosaminoglycans (GAGs), including heparan sulfate and dermatan sulfate, which consequently accumulate in the different organs of the body, resulting from deficiency of an enzyme named Alpha-L-iduronidase. Here, we present an interesting case of a young female patient who presented with a combination of skeletal, oro-facial, ophthalmologic, neurological, and radiological findings of this disease. A diagnosis of Hurler syndrome (Mucopolysaccharidosis Type I) was made late in the disease due to lack of facilities, and the patient was ultimately managed supportively.

Indexed as

alpha l iduronidaseglycosaminoglycanshurler syndromelysosomal storage disordermucopolysaccharidosis type 1

Identifiers

PMID37213966
PMCPMC10195038
OpenAlexW4366333090

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.