Evidence map›Paper›PMID 38469096›Full record

ArticleMolecular genetics and metabolism reports2024

Natural history of three late-diagnosed classic Galactosemia patients.

Dulce Quelhas, Sandra D K Kingma, An I Jonckheere, Claudia S Smeets-Peels, Daniel Costa Gomes, José Duro, Anabela Oliveira, Gert Matthijs, Laura K M Steinbusch, Jaak Jaeken and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism reports, 2024. 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
–field-weighted citation impact
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.

  1. Article
  2. Review
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

12 authors.

Dulce QuelhasUnidade de Bioquímica Genética, Centro de Genética Médica, Centro Hospitalar Universitário de Santo António, Porto, Portugal.
Sandra D K KingmaMosakids Children's Hospital, Maastricht University Medical Center, Maastricht, the Netherlands.
An I JonckheereCentre for Metabolic Diseases, University Hospital Antwerp, University of Antwerp, Edegem, Antwerp, Belgium.
Claudia S Smeets-PeelsStichting Pergamijn, Sittard, the Netherlands.
Daniel Costa GomesCentro de Referȇncia de Doenças Hereditárias do Metabolismo, Centro Hospitalar Universitário de Lisboa Norte, Lisboa, Portugal.
José DuroCentro de Referȇncia de Doenças Hereditárias do Metabolismo, Centro Hospitalar Universitário de Lisboa Norte, Lisboa, Portugal.
Anabela OliveiraCentro de Referȇncia de Doenças Hereditárias do Metabolismo, Centro Hospitalar Universitário de Lisboa Norte, Lisboa, Portugal.
Gert MatthijsLaboratory for Molecular Diagnosis, Center for Human Genetics, KU Leuven, 3000 Leuven, Belgium.
Laura K M SteinbuschDepartment of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands.
Jaak JaekenDepartment of Development and Regeneration, Woman and Child Unit, Center for Metabolic Diseases, KU Leuven, Leuven, Belgium.
Isabel RiveraResearch Institute for Medicines (iMed.ULisboa), Department of Pharmaceutical Sciences and Medicines, Faculty of Pharmacy, Universidade de Lisboa, Lisbon, Portugal.
Estela Rubio-GozalboMosakids Children's Hospital, Maastricht University Medical Center, Maastricht, the Netherlands.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The authors report the natural history of three patients with late-diagnosed Classic Galactosemia (CG) (at 16, 19 and 28 years). This was due to a combination of factors: absence of neonatal screening, absence of some typical acute neonatal symptoms, and negative galactosemia screening. This report underlines the value of neonatal screening and the importance of further diagnostic testing in case of late-onset manifestations.

Indexed as

Classic galactosemiaLate diagnosisNatural history

Identifiers

PMID38469096
PMCPMC10926220

What Socratic 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 Socratic graph.