Evidence map›Paper›PMID 31431883›Full record

ArticleMolecular genetics and metabolism reports2019

D-2-hydroxyglutaric aciduria in a patient with speech delay due to a novel homozygous deletion in the

E Phillips, F Sasarman, D S Sinasac, W Al-Hertani

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

Article in Molecular genetics and metabolism reports, 2019. 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
0.2field-weighted citation impact, top 48% 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, 4 citations in OpenAlex.

  1. Article
  2. Advances in Chiral Metabolomic Profiling and Biomarker Discovery.Methods in molecular biology (Clifton, N.J.) · 2025
    Review
  3. 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

4 authors at 2 institutions in 2 countries.

E PhillipsDepartment of Medical Genetics, Cummings School of Medicine, University of Calgary, Alberta Children's Hospital, Calgary, Alberta, Canada.
F SasarmanDepartment of Medical Genetics, Cummings School of Medicine, University of Calgary, Alberta Children's Hospital, Calgary, Alberta, Canada.
D S SinasacDepartment of Medical Genetics, Cummings School of Medicine, University of Calgary, Alberta Children's Hospital, Calgary, Alberta, Canada.
W Al-HertaniDepartment of Medical Genetics, Cummings School of Medicine, University of Calgary, Alberta Children's Hospital, Calgary, Alberta, Canada.
University of Calgary · CAAlberta Children's Hospital · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

D-2-hydroxyglutaric aciduria is a rare neurometabolic condition with a variable clinical spectrum. Here we report on a patient with speech delay, ascertained for an elevated urine 2-hydroxyglutaric acid levels, and found to have a novel pathogenic homozygous deletion in

Indexed as

2-HydroxyglutaricAciduriaD-2HGAD2HGDHDelaySpeech

Identifiers

PMID31431883
PMCPMC6580329
OpenAlexW2949858255

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.