Evidence map›Paper›PMID 36407556›Full record

ArticleChild neurology open

Clinical Presentation and Genetic Heterogeneity Including Two Novel Variants in Sri Lankan Patients With Infantile Sandhoff Disease.

Siddiqa Ozaal, Subashinie Jayasena, Surani Jayakody, Sabine Schröder, Anura Jayawardana, Eresha Jasinge

Open access · hybridAbstract read
In one paragraph

Article in Child neurology open. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 1 pooled it
0.4field-weighted citation impact, top 40% 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

3 citing papers in PubMed, 1 synthesis or guideline pooled it, 3 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. 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

6 authors at 3 institutions in 2 countries.

Siddiqa OzaalDepartment of Chemical Pathology, National Hospital of Sri Lanka, Colombo, Sri Lanka.ORCID https://orcid.org/0000-0002-6159-7272
Subashinie JayasenaDepartment of Chemical Pathology, Ladyridgeway Hospital for Children in Sri Lanka, Colombo, Sri Lanka.
Surani JayakodyDepartment of Chemical Pathology, Ladyridgeway Hospital for Children in Sri Lanka, Colombo, Sri Lanka.
Sabine SchröderCentogene GmbH, Rostock, Germany.
Anura JayawardanaPaediatric Unit, Ladyridgeway Hospital for Children in Sri Lanka, Colombo, Sri Lanka.
Eresha JasingeDepartment of Chemical Pathology, Ladyridgeway Hospital for Children in Sri Lanka, Colombo, Sri Lanka.
Lady Ridgeway Hospital for Children · LKCentogene (Germany) · DENational Hospital of Sri Lanka · LK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Infantile Sandhoff Disease (

Indexed as

atrial septal defectcafé-au-lait spots HEXB genecardiac involvementInfantile Sandhoff Diseasenovel variants

Identifiers

PMID36407556
PMCPMC9673506
OpenAlexW4309665291

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.