Evidence map›Paper›PMID 35990029›Full record

ArticleJournal of pediatric genetics2022

Importance of Immediate Thiamine Therapy in Children with Suspected Thiamine-Responsive Megaloblastic Anemia-Report on Two Patients Carrying a Novel

Anita Spehar Uroic, Dragan Milenkovic, Elisa De Franco, Ernest Bilic, Natasa Rojnic Putarek, Nevena Krnic

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

Article in Journal of pediatric genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
0.4field-weighted citation impact, top 31% 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

6 citing papers in PubMed, 7 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Systematic Review of Treatment of Beta-Cell Monogenic Diabetes.medRxiv : the preprint server for health sciences · 2023
    Article
  5. Review
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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 5 institutions in 3 countries.

Anita Spehar UroicDivision of Pediatric Endocrinology and Diabetes, Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.
Dragan MilenkovicVarnamo Hospital, Varnamo, Sweden.
Elisa De FrancoMolecular Genetics, University of Exeter Medical School, Exeter, United Kingdom.
Ernest BilicDepartment of Pediatrics, University Hospital Centre Zagreb, Medical School, University of Zagreb, Zagreb, Croatia.
Natasa Rojnic PutarekMedical School, Juraj Dobrila Univeristy of Pula, Pula, Croatia.
Nevena KrnicDepartment of Pediatrics, University Hospital Centre Zagreb, Medical School, University of Zagreb, Zagreb, Croatia.
University Hospital Centre Zagreb · HRJuraj Dobrila University of Pula · HRUniversity of Exeter · GBUniversity of Zagreb · HRVärnamo Sjukhus · SE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Thiamine-responsive megaloblastic anemia (TRMA) is an autosomal recessive disorder characterized by the development of megaloblastic anemia, diabetes mellitus, and sensorineural deafness. We report on the first two Croatian patients with TRMA, compound heterozygotes for nonsense, c.373C > T; p.(Gln125Ter) and novel missense variant, c.1214C > G; p.(Thr405Arg) in

Indexed as

neonatal diabetes mellitusSLC19A2 genethiamine-responsive megaloblastic anemia

Identifiers

PMID35990029
PMCPMC9385258
OpenAlexW3091880192

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.