Evidence map›Paper›PMID 39669636›Full record

ArticleGenetics in medicine open2024

Prospective characterization of early symptom onset and progression in young pediatric patients with variants in the

D A Laney, M F Houde, A L Foley, D S Peck, A M Atherton, L P Manwaring, D K Grange, B A Heese, M D Holida, A L Quillin and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genetics in medicine open, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
  2. Observational
  3. Article
  4. Review
  5. 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.

D A LaneySchool of Medicine, Department of Human Genetics, Emory University, Atlanta, GA.
M F HoudeSchool of Medicine, Department of Human Genetics, Emory University, Atlanta, GA.
A L FoleySchool of Medicine, Department of Human Genetics, Emory University, Atlanta, GA.
D S PeckDivision of Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN.
A M AthertonAmgen Inc, Thousand Oaks, CA.
L P ManwaringDepartment of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St Louis, MO.
D K GrangeDepartment of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St Louis, MO.
B A HeeseDivision of Clinical Genetics, Children's Mercy Kansas City, Kansas City, MO.
M D HolidaStead Family Department of Pediatrics, Division of Medical Genetics and Genomics, University of Iowa, Iowa City, IA.
A L QuillinSchool of Medicine, Department of Human Genetics, Emory University, Atlanta, GA.
R VinsonSchool of Medicine, Department of Human Genetics, Emory University, Atlanta, GA.
C Auray-BlaisDepartment of Pediatrics, Division of Medical Genetics, Université de Sherbrooke, Sherbrooke, QC, Canada.
R J HopkinDepartment of Pediatrics, Division of Human Genetics, Cincinnati Children's Hospital, Cincinnati, OH.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: This prospective, longitudinal study was designed to determine the natural history of Fabry disease (FD) in early pediatric patients across the disease spectrum. Methods: In this observational study of children under 5 years of age with variants in the Results: The study population included 40 participants (35 male, 5 female) with Conclusion: This study highlights the onset and pattern of progression of the earliest Fabry-related symptoms in children with CFD.

Indexed as

Fabry diseaseLysosomal storage disordersNatural historyNewborn screeningPediatric

Identifiers

PMID39669636
PMCPMC11613563

What OpenQuestion holds

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Registered trials

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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.