Evidence map›Paper›PMID 32764102›Full record

ArticleNeurology2020

The natural history of type 2 Gaucher disease in the 21st century: A retrospective study.

Tamanna Roshan Lal, Gurpreet K Seehra, Alta M Steward, Chelsie N Poffenberger, Emory Ryan, Nahid Tayebi, Grisel Lopez, Ellen Sidransky

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed
4.1field-weighted citation impact, top 5% 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

25 citing papers in PubMed, 64 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Review
  5. Gaucher disease, state of the art and perspectives.Journal of internal medicine · 2025
    Review
  6. Atypical case of neonatal-onset Gaucher disease type 3b: A case report.Molecular genetics and metabolism reports · 2025
    Article
  7. Article
  8. Article
  9. Obstacles to Early Diagnosis of Gaucher Disease.Therapeutics and clinical risk management · 2025
    Review
  10. Article
  11. Review
  12. Review
  13. Review
  14. Article
  15. Article
  16. Review
  17. Article
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  20. 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

8 authors at 1 institution in 1 country.

Tamanna Roshan LalFrom the Section on Molecular Neurogenetics (T.R.L., G.K.S., A.M.S., C.P., E.R., N.T., G.L., E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD; and Genetics and Metabolism Rare Disease Institute (T.R.L.), Children's National Medical Center, Washington, DC.
Gurpreet K SeehraFrom the Section on Molecular Neurogenetics (T.R.L., G.K.S., A.M.S., C.P., E.R., N.T., G.L., E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD; and Genetics and Metabolism Rare Disease Institute (T.R.L.), Children's National Medical Center, Washington, DC.
Alta M StewardFrom the Section on Molecular Neurogenetics (T.R.L., G.K.S., A.M.S., C.P., E.R., N.T., G.L., E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD; and Genetics and Metabolism Rare Disease Institute (T.R.L.), Children's National Medical Center, Washington, DC.
Chelsie N PoffenbergerFrom the Section on Molecular Neurogenetics (T.R.L., G.K.S., A.M.S., C.P., E.R., N.T., G.L., E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD; and Genetics and Metabolism Rare Disease Institute (T.R.L.), Children's National Medical Center, Washington, DC.
Emory RyanFrom the Section on Molecular Neurogenetics (T.R.L., G.K.S., A.M.S., C.P., E.R., N.T., G.L., E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD; and Genetics and Metabolism Rare Disease Institute (T.R.L.), Children's National Medical Center, Washington, DC.
Nahid TayebiFrom the Section on Molecular Neurogenetics (T.R.L., G.K.S., A.M.S., C.P., E.R., N.T., G.L., E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD; and Genetics and Metabolism Rare Disease Institute (T.R.L.), Children's National Medical Center, Washington, DC.
Grisel LopezFrom the Section on Molecular Neurogenetics (T.R.L., G.K.S., A.M.S., C.P., E.R., N.T., G.L., E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD; and Genetics and Metabolism Rare Disease Institute (T.R.L.), Children's National Medical Center, Washington, DC.
Ellen SidranskyFrom the Section on Molecular Neurogenetics (T.R.L., G.K.S., A.M.S., C.P., E.R., N.T., G.L., E.S.), Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD; and Genetics and Metabolism Rare Disease Institute (T.R.L.), Children's National Medical Center, Washington, DC. sidranse@mail.nih.gov.
Children's National · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveTo gather natural history data to better understand the changing course of type 2 Gaucher disease (GD2) in order to guide future interventional protocols.

methodsA structured interview was conducted with parents of living or deceased patients with GD2. Retrospective information obtained included disease presentation, progression, medical and surgical history, medications, family history, management, complications, and cause of death, as well as the impact of disease on families.

resultsData from 23 patients were analyzed (20 deceased and 3 living), showing a mean age at death of 19.2 months, ranging from 3 to 55 months. Fourteen patients were treated with enzyme replacement therapy, 2 were treated with substrate reduction therapy, and 3 underwent bone marrow transplantation. Five patients received ambroxol and one was on

conclusionsCurrent available therapies appear to prolong life but do not alter neurologic manifestations. Despite aggressive therapeutic interventions, GD2 remains a progressive disorder with a devastating prognosis that may benefit from new treatment approaches.

Indexed as

Disease ManagementDisease ProgressionChild, PreschoolCost of IllnessFemaleGaucher DiseaseHumansInfantMaleRetrospective Studies

Identifiers

PMID32764102
PMCPMC7713752
OpenAlexW3047606941

What OpenQuestion holds

Textmetadata
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.