Evidence map›Paper›PMID 31061755›Full record

ArticleJournal of pediatric genetics2019

Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel

Salvatore Savasta, Francesco Bassanese, Chiara Buschini, Thomas Foiadelli, Chiara Trabatti, Stephanie Efthymiou, Vincenzo Salpietro, Henry Houlden, Annamaria Simoncelli, Gian Luigi Marseglia

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

Article in Journal of pediatric genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.8field-weighted citation impact, top 25% 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

5 citing papers in PubMed, 18 citations in OpenAlex.

  1. Article
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  5. Report of the Largest Chinese Cohort WithFrontiers in genetics · 2021
    Review
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

10 authors at 4 institutions in 2 countries.

Salvatore SavastaPediatric Clinic, IRCCS Policlinico San Matteo Foundation, University of Pavia, Pavia, Italy.
Francesco BassanesePediatric Clinic, IRCCS Policlinico San Matteo Foundation, University of Pavia, Pavia, Italy.
Chiara BuschiniPediatric Clinic, IRCCS Policlinico San Matteo Foundation, University of Pavia, Pavia, Italy.
Thomas FoiadelliPediatric Clinic, IRCCS Policlinico San Matteo Foundation, University of Pavia, Pavia, Italy.
Chiara TrabattiPediatric Clinic, IRCCS Policlinico San Matteo Foundation, University of Pavia, Pavia, Italy.
Stephanie EfthymiouDepartment of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, United Kingdom.
Vincenzo SalpietroDepartment of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, United Kingdom.
Henry HouldenDepartment of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3BG, United Kingdom.
Annamaria SimoncelliDepartment of Radiology, IRCCS Policlinico San Matteo Foundation, Pavia, Italy.
Gian Luigi MarsegliaPediatric Clinic, IRCCS Policlinico San Matteo Foundation, University of Pavia, Pavia, Italy.
University of Pavia · ITUniversity College London · GBIstituti di Ricovero e Cura a Carattere Scientifico · ITPoliclinico San Matteo Fondazione · IT

Funding

Medical Research Council G0802760Medical Research Council G1001253Medical Research Council G108/638Medical Research Council MR/S01165X/1The Dunhill Medical Trust R605/0717
6 · The paper itself

Abstract

Biotin-thiamine responsive basal ganglia disease (BTRBGD) is an autosomal recessive neurometabolic disorder with poor genotype-phenotype correlation, caused by mutations in the

Indexed as

biotinbiotin-thiamine responsive basal ganglia diseaseencephalopathyLeigh's syndromethiamine

Identifiers

PMID31061755
PMCPMC6499607
OpenAlexW2904686464

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.