Evidence map›Paper›PMID 41598527›Full record

ArticleJournal of clinical medicine2026

A Retrospective Chart Review Study on the Burden of Illness of Acid Sphingomyelinase Deficiency in Brazil.

Roberto Giugliani, Ana Cecília Menezes de Siqueira, Ana Maria Martins, Bianca Fernandes Marcondes, Carolina Fischinger Moura de Souza, Dafne Dain Gandelman Horovitz, Emília Katiane Embiruçu Leão, Gaelle Gusto, Gerson da Silva Carvalho, Osvaldo Artigalás and 4 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of clinical medicine, 2026. 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. Review
  2. Contradictory Effects on Hepatocytes in ASMD.International journal of molecular sciences · 2026
    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

14 authors.

Roberto GiuglianiPostgraduate Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul (UFRGS), Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Instituto Nacional de Ciência e Tecnologia em Multiômica Aplicada à Saúde de Precisão (IMASP), Dasa Genomics and Casa dos Raros, Porto Alegre 90035-903, Brazil.ORCID 0000-0001-9655-3686
Ana Cecília Menezes de SiqueiraTreatment Center of Inborn Errors of Metabolism, Instituto de Medicina Integral Professor Fernando Figueira, Recife 50070-902, Brazil.
Ana Maria MartinsReference Center in Inborn Errors of Metabolism, Federal University of São Paulo, São Paulo 04021-001, Brazil.ORCID 0000-0003-2239-0882
Bianca Fernandes MarcondesSanofi, São Paulo 04794-000, Brazil.
Carolina Fischinger Moura de SouzaClinical Research Servicer, Casa dos Raros, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre 90035-903, Brazil.ORCID 0000-0002-7280-6260
Dafne Dain Gandelman HorovitzCentro de Genetica Medica, Instituto Nacional de Saude da Mulher, da Criança e do Adolescente Fernandes Figueira, Fundação Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil.ORCID 0000-0001-7726-4301
Emília Katiane Embiruçu LeãoDepartment of Medicine, University of Bahia State, Salvador 41150-000, Brazil.
Gaelle GustoCertara, 7500 Paris, France.
Gerson da Silva CarvalhoHospital de Base do Distrito Federal Hospital da Criança de Brasília, Brasília 70684-831, Brazil.
Osvaldo ArtigalásMedical Genetics Service, Moinhos de Vento Hospital, Porto Alegre 90560-032, Brazil.ORCID 0000-0002-6325-3086
Raquel BoyMedical Genetics, Pedro Ernesto University Hospital-UERJ, Rio de Janeiro 20551-030, Brazil.
Rodrigo Rosa de StefaniMedical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre 90035-903, Brazil.
Neeraj Singh RawatSanofi, Hyderabad 500081, India.
Gerasimos KonidarisSanofi, Reading RG6 1PT, UK.

Funding

Sanofi Not applicable
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

acid sphingomyelinase deficiencyBrazildisease burdenhealthcare resource utilizationHospital de Clínicas de Porto Alegremanifestationsretrospective study

Identifiers

PMID41598527
PMCPMC12841961

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.