Evidence map›Paper›PMID 28649529›Full record

ArticleMolecular genetics and metabolism reports2015

Compound heterozygosity with a novel S222N GALT mutation leads to atypical galactosemia with loss of GALT activity in erythrocytes but little evidence of clinical disease.

Benjamin Cocanougher, Umut Aypar, Amber McDonald, Linda Hasadsri, Michael J Bennett, W Edward Highsmith, Kristin D'Aco

Open access · goldAbstract read
In one paragraph

Article in Molecular genetics and metabolism reports, 2015. 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
0.2field-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, 3 citations in OpenAlex.

  1. Review
  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 3 institutions in 1 country.

Benjamin CocanougherUniversity of Rochester School of Medicine and Dentistry, Department of Pediatrics, Division of Genetics, Rochester, NY, USA.
Umut AyparMolecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Amber McDonaldMolecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Linda HasadsriMolecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Michael J BennettMetabolic Disease Laboratory, Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
W Edward HighsmithMolecular Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Kristin D'AcoUniversity of Rochester School of Medicine and Dentistry, Department of Pediatrics, Division of Genetics, Rochester, NY, USA.
Mayo Clinic · USUniversity of Rochester · USChildren's Hospital of Philadelphia · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Galactosemia is an inborn error of galactose metabolism caused by mutations in the

Indexed as

DiagnosisGalactosemiaPathogenesis

Identifiers

PMID28649529
PMCPMC5471153
OpenAlexW2081966826

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.