Evidence map›Paper›PMID 39839200›Full record

ArticleJIMD reports2025

Genotypic Spectrum in a Cohort of Sri Lankan Patients With Homocystinuria.

Hewa Warawitage Dilanthi, Kandana Liyanage Subhashinie Jayasena, Nambage Dona Priyani Dhammika, Neluwa Liyanage Ruwan Indika, Matara Mahavidanage Nishani De Silva, Imalke Kankananarachchi, Pushpa Malkanthi Gardiye Punchihewa, Dharma Irugalbandara, Sabine Schroeder, Kosala Karunaratne and 1 more

Abstract read
In one paragraph

Article in JIMD reports, 2025. 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

11 authors.

Hewa Warawitage DilanthiDepartment of Chemical Pathology Lady Ridgeway Hospital for Children Colombo Sri Lanka.ORCID https://orcid.org/0009-0006-7493-051X
Kandana Liyanage Subhashinie JayasenaDepartment of Chemical Pathology Lady Ridgeway Hospital for Children Colombo Sri Lanka.
Nambage Dona Priyani DhammikaDepartment of Chemical Pathology Lady Ridgeway Hospital for Children Colombo Sri Lanka.
Neluwa Liyanage Ruwan IndikaDepartment of Chemical Pathology Lady Ridgeway Hospital for Children Colombo Sri Lanka.ORCID https://orcid.org/0000-0001-7963-234X
Matara Mahavidanage Nishani De SilvaDepartment of Chemical Pathology Lady Ridgeway Hospital for Children Colombo Sri Lanka.
Imalke KankananarachchiDepartment of Paediatrics, Faculty of Medicine University of Ruhuna Galle Sri Lanka.
Pushpa Malkanthi Gardiye PunchihewaPaediatric Unit Lady Ridgeway Hospital for Children Colombo Sri Lanka.
Dharma IrugalbandaraOphthalmology Unit Lady Ridgeway Hospital for Children Colombo Sri Lanka.
Sabine SchroederCentogene GmbH Rostock Germany.ORCID https://orcid.org/0000-0001-6515-6944
Kosala KarunaratnePaediatric Unit Lady Ridgeway Hospital for Children Colombo Sri Lanka.
Eresha JasingeDepartment of Chemical Pathology Lady Ridgeway Hospital for Children Colombo Sri Lanka.ORCID https://orcid.org/0000-0001-6265-0461

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Homocystinuria due to cystathionine beta-synthase (CBS) deficiency is a rare metabolic disorder inherited as an autosomal recessive trait. Spectrum of genetic variants in

Indexed as

betainecystathionine beta‐synthasecystathionine beta‐synthase deficiencyhomocystinuriapyridoxine

Identifiers

PMID39839200
PMCPMC11747349

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.