Evidence map›Paper›PMID 35242569›Full record

ArticleMolecular genetics and metabolism reports2022

Uridine monophosphate (UMP)-responsive developmental and epileptic encephalopathy: A case report of two siblings and a review of literature.

Ali Al-Otaibi, Alaa AlAyed, Asma Al Madhi, Leena Saeed, Bobby G Ng, Hudson H Freeze, Mohammed Almannai

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

Article in Molecular genetics and metabolism reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.5field-weighted citation impact, top 37% 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, 8 citations in OpenAlex.

  1. Article
  2. Article
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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

7 authors at 2 institutions in 2 countries.

Ali Al-OtaibiDepartment of Pediatric Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia.
Alaa AlAyedSection of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
Asma Al MadhiDepartment of Pediatric Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia.
Leena SaeedSection of Clinical Pharmacy, Neurology Department, King Fahad Medical City, Riyadh, Saudi Arabia.
Bobby G NgHuman Genetics Program, Sanford Burnham Prebys, La Jolla, CA 92037, USA.
Hudson H FreezeHuman Genetics Program, Sanford Burnham Prebys, La Jolla, CA 92037, USA.
Mohammed AlmannaiSection of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
King Fahd Medical City · SASanford Burnham Prebys Medical Discovery Institute · US

Funding

New Congenital Disorders of Glycosylation: Therapy and ModelsR01DK099551 · NIDDK · SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE · PI Hudson H. Freeze · 2014 to 2026
$6.7M
NIDDK NIH HHS R01 DK099551
6 · The paper itself

Abstract

Developmental and epileptic encephalopathy type 50 is an autosomal recessive disorder caused by pathogenic variants in

Indexed as

CADDevelopmental delaySeizureUridine

Identifiers

PMID35242569
PMCPMC8856910
OpenAlexW4200034577

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.