Evidence map›Paper›PMID 28932688›Full record

ArticleMolecular genetics and metabolism reports2017

ALG9-CDG: New clinical case and review of the literature.

Kellie Davis, Duncan Webster, Chris Smith, Sheryl Jackson, David Sinasac, Lorne Seargeant, Xing-Chang Wei, Patrick Ferreira, Julian Midgley, Yolanda Foster and 3 more

Open access · goldAbstract readCase Reports
In one paragraph

Article in Molecular genetics and metabolism reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed, 1 pooled it
1.1field-weighted citation impact, top 22% 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

14 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.

  1. Pooled it
  2. Trial
  3. Article
  4. Review
  5. Article
  6. Article
  7. Article
  8. Review
  9. Article
  10. Article
  11. Review
  12. Journal of the American Society of Nephrology : JASN · 2019
    Article
  13. New Ways of Finding New Genes for Old Diseases.Journal of the American Society of Nephrology : JASN · 2019
    Article
  14. 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

13 authors at 4 institutions in 2 countries.

Kellie DavisDepartment of Medical Genetics, Cummings School of Medicine, University of Calgary, Alberta Children's Hospital, Calgary, Alberta, Canada.
Duncan WebsterDepartment of Medicine, Dalhousie University, Saint John, New Brunswick, Canada.
Chris SmithDepartment of Medical Genetics, Cummings School of Medicine, University of Calgary, Alberta Children's Hospital, Calgary, Alberta, Canada.
Sheryl JacksonDepartment of Medical Genetics, Cummings School of Medicine, University of Calgary, Alberta Children's Hospital, Calgary, Alberta, Canada.
David SinasacDepartment of Medical Genetics, Cummings School of Medicine, University of Calgary, Alberta Children's Hospital, Calgary, Alberta, Canada.
Lorne SeargeantDepartment of Clinical Biochemistry and Genetics, Diagnostic Services Manitoba, Department of Pediatrics, University of Manitoba, Winnipeg, Manitoba, Canada.
Xing-Chang WeiDepartment of Diagnostic Radiology, University of Calgary, Alberta Children's Hospital, Calgary, Alberta, Canada.
Patrick FerreiraDepartment of Medical Genetics, Cummings School of Medicine, University of Calgary, Alberta Children's Hospital, Calgary, Alberta, Canada.
Julian MidgleyDepartment of Pediatrics, University of Calgary, Alberta Children's Hospital, Calgary, Alberta, Canada.
Yolanda FosterDepartment of Medical Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Xueli LiDepartment of Medical Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Miao HeDepartment of Medical Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Walla Al-HertaniDepartment of Medical Genetics, Cummings School of Medicine, University of Calgary, Alberta Children's Hospital, Calgary, Alberta, Canada.
University of Calgary · CAChildren's Hospital of Philadelphia · USDalhousie University · CAShared Health · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital disorders of glycosylation (CDG) are a group of metabolic diseases resulting from defects in glycan synthesis or processing. The number of subgroups and their phenotypic spectrums continue to expand with most related to deficiencies of N-glycosylation. ALG9-CDG (previously CDG-IL) is the result of a mutation in

Indexed as

ALG9ALG9-CDGCDG-ILCongenital disorders of glycosylationLethal skeletal dysplasiaTransferrin isoelectrofocusing type 1 pattern

Identifiers

PMID28932688
PMCPMC5596360
OpenAlexW2753602144

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.