Evidence map›Paper›PMID 39544689›Full record

ArticleJIMD reports2024

Acid sphingomyelinase deficiency and Gaucher disease in adults: Similarities and differences in two macrophage storage disorders.

Eline C B Eskes, Laura van Dussen, Johannes M F G Aerts, Martijn J C van der Lienden, Mario Maas, Erik M Akkerman, André B P van Kuilenburg, Barbara Sjouke, Carla E M Hollak

Abstract read
In one paragraph

Article in JIMD reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Trial
  2. Review
  3. Article
  4. 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

9 authors.

Eline C B EskesEndocrinology and Metabolism Amsterdam UMC location University of Amsterdam Amsterdam The Netherlands.ORCID https://orcid.org/0000-0003-3662-0212
Laura van DussenEndocrinology and Metabolism Amsterdam UMC location University of Amsterdam Amsterdam The Netherlands.ORCID https://orcid.org/0000-0002-6539-531X
Johannes M F G AertsDepartment of Medical Biochemistry Leiden Institute of Chemistry, Department of Medical Biochemistry Leiden The Netherlands.ORCID https://orcid.org/0000-0001-8168-2565
Martijn J C van der LiendenDepartment of Medical Biochemistry Leiden Institute of Chemistry, Department of Medical Biochemistry Leiden The Netherlands.ORCID https://orcid.org/0000-0002-6458-1479
Mario MaasRadiology and Nuclear Medicine Amsterdam UMC location University of Amsterdam Amsterdam The Netherlands.ORCID https://orcid.org/0000-0001-6785-5167
Erik M AkkermanRadiology and Nuclear Medicine Amsterdam UMC location University of Amsterdam Amsterdam The Netherlands.
André B P van KuilenburgAmsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism Amsterdam The Netherlands.ORCID https://orcid.org/0000-0002-7989-4910
Barbara SjoukeEndocrinology and Metabolism Amsterdam UMC location University of Amsterdam Amsterdam The Netherlands.ORCID https://orcid.org/0000-0001-8162-9684
Carla E M HollakEndocrinology and Metabolism Amsterdam UMC location University of Amsterdam Amsterdam The Netherlands.ORCID https://orcid.org/0000-0003-0464-1078

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The lysosomal storage diseases chronic visceral acid sphingomyelinase deficiency (ASMD) and Gaucher disease type 1 (GD1) are both macrophage storage disorders with overlapping clinical manifestations. We compared cross-sectional data on visceral, hematological, and biochemical manifestations of untreated adult patients with chronic visceral ASMD (

Indexed as

acid sphingomyelinase deficiencybiomarkersGaucher diseasesphingolipids

Identifiers

PMID39544689
PMCPMC11558470

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.