Evidence map›Paper›PMID 33977035›Full record

ArticleJIMD reports2021

[

Can Ficicioglu, Didem Demirbas, Britt Derks, G Shashidhar Pai, David J Timson, Maria Estela Rubio-Gozalbo, Gerard T Berry

Open access · goldAbstract read
In one paragraph

Article in JIMD reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.3field-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

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. [JIMD reports · 2021
    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 5 institutions in 3 countries.

Can FiciciogluDepartment of Pediatrics, Section of Biochemical Genetics The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine Philadelphia Pennsylvania USA.
Didem DemirbasDivision of Genetics and Genomics, The Manton Center for Orphan Disease Research Boston Children's Hospital, Harvard Medical School Boston Massachusetts USA.
Britt DerksDepartment of Pediatrics Maastricht University Medical Centre Maastricht The Netherlands.
G Shashidhar PaiMedical University of South Carolina Children's Health, Division of Genetics Charleston South Carolina USA.
David J TimsonSchool of Pharmacy and Biomolecular Sciences University of Brighton Brighton UK.
Maria Estela Rubio-GozalboDepartment of Pediatrics Maastricht University Medical Centre Maastricht The Netherlands.
Gerard T BerryDivision of Genetics and Genomics, The Manton Center for Orphan Disease Research Boston Children's Hospital, Harvard Medical School Boston Massachusetts USA.ORCID https://orcid.org/0000-0001-5299-3313
Boston Children's Hospital · USMaastricht University Medical Centre · NLChildren's Hospital of Philadelphia · USMedical University of South Carolina · USUniversity of Brighton · GB

Funding

ZIDOVUDINE VS 2',3'DIDEHYDRO-3'DEOXYTHYMIDINE IN CHILDRENM01RR000240 · NCRR · CHILDREN'S HOSP OF PHILADELPHIA · PI ALTSCHULER, STEVEN M · 1985 to 2006
$15.3M
NCRR NIH HHS M01 RR000240
6 · The paper itself

Abstract

Galactokinase deficiency is an inborn error of carbohydrate metabolism due to a block in the formation of galactose-1-phosphate from galactose. Although the association of galactokinase deficiency with formation of cataracts is well established, the extent of the clinical phenotype is still under investigation. We describe a 6-year-old female who was diagnosed with galactokinase deficiency due to cataract formation when she was 10 months of age and initially started on galactose-restricted diet at that time for 5 months. She developed gait abnormality at 4 years of age. Breath tests via measurement of

Indexed as

galactosemiaGALK1 deficiencyin vivo galactose oxidationstable‐isotope labeled galactose

Identifiers

PMID33977035
PMCPMC8100398
OpenAlexW3128541759

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.