Evidence map›Paper›PMID 37576789›Full record

ArticleBalkan journal of medical genetics : BJMG2023

Sensorineural Hearing Loss in a Child with Succinic Semialdehyde Dehydrogenase Deficiency.

M Parezanović, N Ilić, S Ostojić, G Stevanović, J Ječmenica, A Maver, A Sarajlija

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Balkan journal of medical genetics : BJMG, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.3field-weighted citation impact, top 43% 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

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Article
  2. 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

7 authors at 4 institutions in 3 countries.

M ParezanovićDepartment of Pediatric Intensive Care, Mother and Child Health Care Institute "Dr Vukan Čupić", Belgrade, Serbia.
N IlićClinical Genetics Outpatient Clinic, Mother and Child Health Care Institute "Dr Vukan Čupić", Belgrade, Serbia.
S OstojićDepartment of Neurology, Mother and Child Health Care Institute "Dr Vukan Čupić", Belgrade, Serbia.
G StevanovićClinic of Neurology and Psychiatry for Children and Youth, University of Belgrade, Faculty of Medicine, Belgrade, Serbia.
J JečmenicaDepartment of Otorhinolaryngology, Mother and Child Health Care Institute "Dr Vukan Čupić", Belgrade, Serbia.
A MaverClinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
A SarajlijaClinical Genetics Outpatient Clinic, Mother and Child Health Care Institute "Dr Vukan Čupić", Belgrade, Serbia.
Ljubljana University Medical Centre · SIInstitute of Public Health of Serbia · RSUniversity of Belgrade · RSUniversity of East Sarajevo · BA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal-recessive disorder of gamma-aminobutyric acid (GABA) metabolism, resulting in accumulation of GABA and gamma-hydroxybutyric acid (GHB) in physiological fluids. Approximately 450 patients have been diagnosed worldwide with this inherited neurotransmitter disorder. We report on a five-year-old male patient, homozygous for the pathogenic variant (NM_170740:c.1265G>A) in

Indexed as

ALDH5A1cookie-bite audiogramgamma-aminobutyric acidsensorineural hearing losssuccinic semialdehyde dehydrogenase deficiency

Identifiers

PMID37576789
PMCPMC10413887
OpenAlexW4385730181

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.