Evidence map›Paper›PMID 31240153›Full record

ArticleJIMD reports2019

Genotype and phenotype classification of 29 patients affected by Krabbe disease.

Anna M H Madsen, Flemming Wibrand, Allan M Lund, Jakob Ek, Morten Dunø, Elsebet Østergaard

Open access · goldAbstract read
In one paragraph

Article in JIMD reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
1.2field-weighted citation impact, top 20% 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

13 citing papers in PubMed, 17 citations in OpenAlex.

  1. Review
  2. Very late-onset Krabbe disease with concomitant dementia: case description and a critical review of the literature.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
    Review
  3. Article
  4. Article
  5. Article
  6. Article
  7. Review
  8. A diagnostic confidence scheme for CLN3 disease.Journal of inherited metabolic disease · 2021
    Observational
  9. Compound heterozygous pathogenic variants in theTranslational pediatrics · 2021
    Article
  10. Article
  11. Article
  12. Pathogenic Variants inFrontiers in neurology · 2020
    Article
  13. 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

6 authors at 1 institution in 1 country.

Anna M H MadsenDepartment of Clinical Genetics Copenhagen University Hospital Rigshospitalet Copenhagen Denmark.
Flemming WibrandDepartment of Clinical Genetics Copenhagen University Hospital Rigshospitalet Copenhagen Denmark.
Allan M LundDepartment of Clinical Genetics Copenhagen University Hospital Rigshospitalet Copenhagen Denmark.
Jakob EkDepartment of Clinical Genetics Copenhagen University Hospital Rigshospitalet Copenhagen Denmark.
Morten DunøDepartment of Clinical Genetics Copenhagen University Hospital Rigshospitalet Copenhagen Denmark.
Elsebet ØstergaardDepartment of Clinical Genetics Copenhagen University Hospital Rigshospitalet Copenhagen Denmark.ORCID https://orcid.org/0000-0002-8047-063X
Copenhagen University Hospital · DK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Krabbe disease is a rare neurodegenerative lysosomal storage disorder caused by mutations in the galactocerebrosidase gene,

Indexed as

GALC mutationsgenotype‐phenotype analysisgloboid cell leukodystrophyKrabbe disease

Identifiers

PMID31240153
PMCPMC6498822
OpenAlexW2996680340

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.